Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Lee, Jae Yeol, In, Sung-Il, Kim, Hyon J, Jeong, Seon-Yong, Choung, Yun Hoon, Kim, You Chan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: The Korean Academy of Medical Sciences 2010
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2946671/
https://ncbi.nlm.nih.gov/pubmed/20890442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2010.25.10.1539
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