DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

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Summary

Literature (2)

Literature for OMIM 220290: DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A

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Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.
GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Cengiz FB,White TW,Radnaabazar J,Tastan H,Nance WE,Pandya A,Dangaasuren B,Erdenetungalag R, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.

Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T., Skerrett IM,Di WL,Kasperek EM,Kelsell DP,Nicholson BJ, FASEB J. May 1, 2004; 18(7):1530-6860.

GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf., Tekin M,Xia XJ,Cengiz FB,White TW,Radnaabazar J,Tastan H,Nance WE,Pandya A,Dangaasuren B,Erdenetungalag R, Ann Hum Genet. March 1, 2010; 74(2):1469-1809.