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    Harris, Andrew L. and Contreras, Jorge E. 2014. Motifs in the permeation pathway of connexin channels mediate voltage and Ca2+ sensing. Frontiers in Physiology, Vol. 5,

    Laird, Dale W. 2014. Syndromic and non-syndromic disease-linked Cx43 mutations. FEBS Letters, Vol. 588, Issue. 8, p. 1339.

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    Tong, Xiaoling Aoyama, Hiroshi Tsukihara, Tomitake and Bai, Donglin 2014. Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating. The Journal of Physiology, Vol. 592, Issue. 23, p. 5187.

    Hoefsloot, Lies H Roux, Anne-Françoise and Bitner-Glindzicz, Maria 2013. EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus. European Journal of Human Genetics, Vol. 21, Issue. 11, p. 1325.

    Ibáñez, María M. Alcalde, María M. Jiménez, María R. Muñoz, María D. and Díez-Delgado, Francisco J. 2013. An Unusual Mucocutaneous Syndrome with Sensorineural Deafness Due to Connexin 26 Mutations. Pediatric Dermatology, Vol. 30, Issue. 6, p. e138.

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  • Expert Reviews in Molecular Medicine, Volume 11
  • 2009, e35

Connexin-26 mutations in deafness and skin disease

  • Jack R. Lee (a1) and Thomas W. White (a1)
  • DOI:
  • Published online: 19 November 2009

Gap junctions allow the exchange of ions and small molecules between adjacent cells through intercellular channels formed by connexin proteins, which can also form functional hemichannels in nonjunctional membranes. Mutations in connexin genes cause a variety of human diseases. For example, mutations in GJB2, the gene encoding connexin-26 (Cx26), are not only a major cause of nonsyndromic deafness, but also cause syndromic deafness associated with skin disorders such as palmoplantar keratoderma, keratitis–ichthyosis deafness syndrome, Vohwinkel syndrome, hystrix–ichthyosis deafness syndrome and Bart–Pumphrey syndrome. The most common mutation in the Cx26 gene linked to nonsyndromic deafness is 35ΔG, a frameshift mutation leading to an early stop codon. The large number of deaf individuals homozygous for 35ΔG do not develop skin disease. Similarly, there is abundant experimental evidence to suggest that other Cx26 loss-of-function mutations cause deafness, but not skin disease. By contrast, Cx26 mutations that cause both skin diseases and deafness are all single amino acid changes. Since nonsyndromic deafness is predominantly a loss-of-function disorder, it follows that the syndromic mutants must show an alteration, or gain, of function to cause skin disease. Here, we summarise the functional consequences and clinical phenotypes resulting from Cx26 mutations that cause deafness and skin disease.

Corresponding author
*Corresponding author: Thomas W. White, Department of Physiology and Biophysics, Stony Brook University Medical Center, T5-147, Basic Science Tower, Stony Brook, NY 11794-8661, USA. Tel: +1 631 444 9683; Fax: +1 631 444 3432; E-mail:
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This list contains references from the content that can be linked to their source. For a full set of references and notes please see the PDF or HTML where available.

1D.A. Goodenough and D.L. Paul (2003) Beyond the gap: functions of unpaired connexon channels. Nature Reviews Molecular Cell Biology 4, 285-294

3J.X. Jiang and S. Gu (2005) Gap junction- and hemichannel-independent actions of connexins. Biochimica et Biophysica Acta 1711, 208-214

4J.C. Saez (2005) Connexin-based gap junction hemichannels: gating mechanisms. Biochimica Biophysica Acta 1711, 215-224

5G. Sohl (2003) Expression profiles of the novel human connexin genes hCx30. 2, hCx40.1, and hCx62 differ from their putative mouse orthologues. Cell Communication and Adhesion 10, 27-36

6J. Santos-Sacchi and P. Dallos (1983) Intercellular communication in the supporting cells of the organ of Corti. Hearing Research 9, 317-326

7H.B. Zhao (2006) Gap junctions and cochlear homeostasis. Journal of Membrane Biology 209, 177-186

8D.J. Jagger and A. Forge (2006) Compartmentalized and signal-selective gap junctional coupling in the hearing cochlea. Journal of Neuroscience 26, 1260-1268

9T. Kikuchi (1994) Gap junction systems in the rat vestibular labyrinth: immunohistochemical and ultrastructural analysis. Acta Otolaryngologica 114, 520-528

10T. Kikuchi (1995) Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anatomy and Embryology 191, 101-118

11B.M. Johnstone (1989) Stimulus-related potassium changes in the organ of Corti of guinea-pig. Journal of Physiology 408, 77-92

13T. Kikuchi (2000) Gap junction systems in the mammalian cochlea. Brain Research Brain Research Reviews 32, 163-166

14P. Wangemann (2002) K(+) cycling and its regulation in the cochlea and the vestibular labyrinth. Audiology and Neurootology 7, 199-205

15H. Hibino and Y. Kurachi (2006) Molecular and physiological bases of the K+ circulation in the mammalian inner ear. Physiology 21, 336-345

16B.A. Schulte and J.C. Adams (1989) Distribution of immunoreactive Na+, K+-ATPase in gerbil cochlea. Journal of Histochemistry and Cytochemistry 37, 127-134

17J.J. Crouch (1997) Immunohistochemical localization of the Na-K-Cl co-transporter (NKCC1) in the gerbil inner ear. Journal of Histochemistry and Cytochemistry 45, 773-778

18R. Bruzzone and M. Cohen-Salmon (2005) Hearing the messenger: Ins(1, 4, 5)P3 and deafness. Nature Cell Biology 7, 14-16

19M. Beltramello (2005) Impaired permeability to Ins(1, 4, 5)P3 in a mutant connexin underlies recessive hereditary deafness. Nature Cell Biology 7, 63-69

20R. Caputo and D. Peluchetti (1977) The junctions of normal human epidermis. A freeze-fracture study. Journal of Ultrastructure Reseach 61, 44-61

22E. Kam (1986) Patterns of junctional communication in skin. Journal of Investigative Dermatology 87, 748-753

23D. Salomon (1988) Cell-to-cell communication within intact human skin. Journal of Clinical Investigation 82, 248-254

24C.S. Potten (1981) Cell replacement in epidermis (keratopoiesis) via discrete units of proliferation. International Reviews in Cytology 69, 271-318

25D.P. Kelsell (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. European Journal of Human Genetics 8, 469-472

26W.L. Di (2001) Connexin 26 expression and mutation analysis in epidermal disease. Cell Communication and Adhesion 8, 415-418

27G. Mese (2007) Gap junctions: basic structure and function. Journal of Investigative Dermatology 127, 2516-2524

28E. Masgrau-Peya (1997) In vivo modulation of connexins 43 and 26 of human epidermis by topical retinoic acid treatment. Journal of Histochemisty and Cytochemistry 45, 1207-1215

29M.V. Rivas (1997) Identification of aberrantly regulated genes in diseased skin using the cDNA differential display technique. Journal of Investigative Dermatology 108, 188-194

30M.P. Labarthe (1998) Upregulation of connexin 26 between keratinocytes of psoriatic lesions. Journal of Investigative Dermatology 111, 72-76

31T. Lucke (1999) Upregulation of connexin 26 is a feature of keratinocyte differentiation in hyperproliferative epidermis, vaginal epithelium, and buccal epithelium. Journal of Investigative Dermatology 112, 354-361

32J.A. Goliger and D.L. Paul (1995) Wounding alters epidermal connexin expression and gap junction-mediated intercellular communication. Molecular Biology of the Cell 6, 1491-1501

33M.J. Sawey (1996) Perturbation in connexin 43 and connexin 26 gap-junction expression in mouse skin hyperplasia and neoplasia. Molecular Carcinogenesis 17, 49-61

34R.J. Smith (2004) Clinical application of genetic testing for deafness. American Journal of Medical Genetics A 130A, 8-12

35S.A. Apps (2007) Connexin 26 mutations in autosomal recessive deafness disorders: a review. International Journal of Audiology 46, 75-81

36L. Tranebaerg (2008) Genetics of congenital hearing impairment: a clinical approach. International Journal of Audiology 47, 535-545

37T.W. White (2000) Functional analysis of human Cx26 mutations associated with deafness. Brain Res. Brain Research Reviews 32, 181-183

38R. Bruzzone (2003) Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness. FEBS Letters 533, 79-88

39D.P. Kelsell (1997) Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 387, 80-83

40F. Denoyelle (1998) Connexin 26 gene linked to a dominant deafness. Nature 393, 319-320

41C.G. Meyer (2002) Selection for deafness? Nature Medicine 8, 1332-1333

42Y.K. Man (2007) A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. Journal of Membrane Biology 218, 29-37

43P. d'Adamo (2009) Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? European Journal of Human Genetics 17, 284-286

45C. Petit (2001) Molecular genetics of hearing loss. Annual Reviews in Genetics 35, 589-646

47A. Xia (1999) Expression of connexin 26 and Na, K-ATPase in the developing mouse cochlear lateral wall: functional implications. Brain Research 846, 106-111

48M.B. Petersen and P.J. Willems (2006) Non-syndromic, autosomal-recessive deafness. Clinical Genetics 69, 371-392

49E.H. Chang (2003) The role of connexins in human disease. Ear and Hearing 24, 314-323

50P. Guilford (1994) A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nature Genetics 6, 24-28

51I. del Castillo (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. New England Journal of Medicine 346, 243-249

52P. Dai (2009) GJB2 mutation spectrum in 2, 063 Chinese patients with nonsyndromic hearing impairment. Journal of Translational Medicine 7, 26

53R. Rabionet (2000) Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins. Human Mutation 16, 190-202

54T. Antoniadi (2000) Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness. Human Mutation 16, 7-12

55A. Alvarez (2005) High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss. American Journal of Medical Genetics A 137A, 255-258

56A.Y. Joseph and T.J. Rasool (2009) High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India. International Journal of Pediatric Otorhinolaryngology 73, 437-443

58S. Bouwer (2007) Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates. Genetic Testing 11, 455-458

60J. Dong (2001) Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews. Molecular Genetics and Metabolism 73, 160-163

61I. Lerer (2001) A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. Human Mutation 18, 460

62P. Dai (2007) The prevalence of the 235delC GJB2 mutation in a Chinese deaf population. Genetics in Medicine 9, 283-289

63S. Abe (2000) Prevalent connexin 26 gene (GJB2) mutations in Japanese. Journal of Medical Genetics 37, 41-43

64D. Yan (2003) Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians. Human Genetics. 114, 44-50

65K. Cryns (2004) A genotype-phenotype correlation for GJB2 (connexin 26) deafness. Journal of Medical Genetics 41, 147-154

66T. Oguchi (2005) Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. Journal of Human Genetics 50, 76-83

67P.M. Picciotti (2009) Correlation between GJB2 mutations and audiological deficits: personal experience. European Archives of Otorhinolaryngology 266, 489-494

68N. Hilgert (2009) Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene. European Journal of Human Genetics 17, 517-524

69S.I. Angeli (2008) Phenotype/genotype correlations in a DFNB1 cohort with ethnical diversity. Laryngoscope 118, 2014-2023

70B.O. Hismi (2006) Effects of GJB2 genotypes on the audiological phenotype: variability is present for all genotypes. International Journal of Pediatric Otorhinolaryngology 70, 1687-1694

71J. Lautermann (1998) Expression of the gap-junction connexins 26 and 30 in the rat cochlea. Cell and Tissue Research 294, 415-420

73A.P. Xia (2000) Expression of connexin 31 in the developing mouse cochlea. Neuroreport 11, 2449-2453

74S. Ahmad (2003) Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochemistry and Biophysics Research Communications 307, 362-368

75T. Kudo (2003) Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness. Human Molecular Genetics 12, 995-1004

76M. Cohen-Salmon (2004) Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear. Cell and Tissue Research 316, 15-22

77H.B. Zhao (2005) Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications. European Journal of Neuroscience 21, 1859-1868

78D.A. Gerido and T.W. White (2004) Connexin disorders of the ear, skin, and lens. Biochimica et Biophysica Acta 1662, 159-170

79M.A. van Steensel (2004) Gap junction diseases of the skin. American Journal of Medical Genetics C 131C, 12-19

80G. Richard (2005) Connexin disorders of the skin. Clinical Dermatology 23, 23-32

81J.E. Lai-Cheong (2007) Genetic diseases of junctions. Journal of Investigative Dermatology 127, 2713-2725

82K.H. Vohwinkel (1929) Keratoma hereditarium mutilans. Archiv fur Dermatologie und Syphilis 158, 354-364

83B.P. Korge (1997) Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. Journal of Investigative Dermatology 109, 604-610

84E. Maestrini (1999) A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Human Molecular Genetics 8, 1237-1243

85E. Maestrini (1996) A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genetics 13, 70-77

86K. Peris (1995) Keratoderma hereditarium mutilans (Vohwinkel's syndrome) associated with congenital deaf-mutism. British Journal of Dermatology 132, 617-620

89R.L. Snoeckx (2005) Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Human Mutation 26, 60-61

90G. Richard (2004) Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. Journal of Investigative Dermatology 123, 856-863

91R.S. Bart and R.E. Pumphrey (1967) Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. New England Journal of Medicine 276, 202-207

92J.C. Ramer (1994) Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. Journal of Medical Genetics 31, 68-71

94K. Heathcote (2000) A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). Journal of Medical Genetics 37, 50-51

95N.J. Leonard (2005) Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. Journal of Medical Genetics 42, e2

96M. Sharland (1992) Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. Journal of Medical Genetics 29, 50-52

97J. Verbov (1987) Palmoplantar keratoderma, deafness and atopy. British Journal of Dermatology 116, 881-882

98O. Uyguner (2002) The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. Clinical Genetics 62, 306-309

99S. Iossa (2009) New evidence for the correlation of the p. G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma. American Journal of Medical Genetics A 149A, 685-688

100G. Richard (1998) Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics 103, 393-399

101E.A. Zwart-Storm (2008) A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. Journal of Medical Genetics 45, 161-166

102M. Akiyama (2007) A novel GJB2 mutation p. Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. Journal of Investigative Dermatology 127, 1540-1543

103E.A. Zwart-Storm (2008) A novel missense mutation in the second extracellular domain of GJB2, p. Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. American Journal of Pathology 173, 1113-1119

104J.J. Grob (1987) Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Archives of Dermatology 123, 777-782

105V. Nazzaro (1990) Familial occurrence of KID (keratitis, ichthyosis, deafness) syndrome. Case reports of a mother and daughter. Journal of American Academy of Dermatology 23, 385-388

106Y.M. Szymko-Bennett (2002) Auditory manifestations of Keratitis-Ichthyosis-Deafness (KID) syndrome. Laryngoscope 112, 272-280

108G. Richard (2002) Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. American Journal of Human Genetics 70, 1341-1348

109M.A. van Steensel (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. Journal of Investigative Dermatology 118, 724-727

110A. Gilliam and M.L. Williams (2002) Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. Pediatric Dermatology 19, 232-236

111A.J. Griffith (2006) Cochleosaccular dysplasia associated with a connexin 26 mutation in keratitis-ichthyosis-deafness syndrome. Laryngoscope 116, 1404-1408

112L. Jonard (2008) A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. European Journal of Medical Genetics 51, 35-43

113M. van Geel (2002) HID and KID syndromes are associated with the same connexin 26 mutation. British Journal of Dermatology 146, 938-942

114M.A. van Steensel (2004) A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation. Journal of Investigative Dermatology 123, 291-293

115J. Mazereeuw-Hautier (2007) Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. British Journal of Dermatology 156, 1015-1019

116J.R. Montgomery (2004) A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad. Journal of the American Academy of Dermatology 51, 377-382

117B.C. Stong (2006) A novel mechanism for connexin 26 mutation linked deafness: cell death caused by leaky gap junction hemichannels. Laryngoscope 116, 2205-2210

118K. Arita (2006) A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. American Journal of Pathology 169, 416-423

119S. Yotsumoto (2003) Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome. British Journal of Dermatology 148, 649-653

122H. Traupe (1989) The Ichthyoses: A Guide to Clinical Diagnosis, Genetic Counseling, and Therapy, Springer-Verlag

124G.M. Clark (2008) Personal reflections on the multichannel cochlear implant and a view of the future. Journal of Rehabilitation Research and Development 45, 651-693

126E.J. Barker and R.J. Briggs (2008) Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. Cochlear Implants International 10, 166-173

128S.L. Cushing (2008) Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. International Journal of Pediatric Otorhinolaryngology 72, 693-698

130M. Braun-Falco (2009) Hereditary Palmoplantar Keratodermas. Journal of Dtsch. Dermatol. Ges.

131Y. Maeda (2005) In vitro and in vivo suppression of GJB2 expression by RNA interference. Human Molecular Genetics 14, 1641-1650

132R.S. Mani (2009) Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss. European Journal of Human Genetics 17, 502-509

133G. Mese (2008) Connexin26 deafness associated mutations show altered permeability to large cationic molecules. American Journal of Physiology Cell Physiology 295, C966-C974

134D.A. Gerido (2007) Aberrant hemichannel properties of Cx26 mutations causing skin disease and deafness. American Journal of Physiology Cell Physiology 293, C337-C345

136R. Bruzzone (2001) Functional analysis of a dominant mutation of human connexin26 associated with nonsyndromic deafness. Cell Communication and Adhesion 8, 425-431

138N.K. Marziano (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Human Molecular Genetics 12, 805-812

139T. Thomas (2004) Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations. Journal of Biological Chemistry 279, 19157-19168

140G. Bakirtzis (2003) Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Human Molecular Genetics 12, 1737-1744

141T.D. Matos (2008) A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss. Hearing Research 240, 87-92

142M.V. Bennett (2003) New roles for astrocytes: gap junction hemichannels have something to communicate. Trends in Neuroscience 26, 610-617

143J.R. Lee (2009) Connexin mutations causing skin disease and deafness increase hemichannel activity and cell death when expressed in Xenopus oocytes. Journal of Investigative Dermatology 129, 870-878

144M. Cohen-Salmon (2002) Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Current Biology 12, 1106-1111

145Y. Wang (2009) Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochemical and Biophysical Research Communications 385, 33-37

146C.W. Brown (2003) A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. Journal of Investigative Dermatology 121, 1221-1223

147T. Thomas (2003) Transport and function of cx26 mutants involved in skin and deafness disorders. Cell Communication and Adhesion 10, 353-358

148A. Forge (2003) Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. Journal of Comparative Neurology 467, 207-231

150S. Maeda (2009) Structure of the connexin 26 gap junction channel at 3.5 A resolution. Nature 458, 597-602

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