GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss.

The GJB2 gene is located on chromosome 13q12 and it encodes the connexin 26, a transmembrane protein involved in cell-cell attachment of almost all tissues. GJB2 mutations cause autosomal recessive (DFNB1) and sometimes dominant (DFNA3) non-syndromic sensorineural hearing loss. Moreover, it has been...

Descripción completa

Detalles Bibliográficos
Autores principales: Iossa, Sandra, Marciano, Elio, Franzé, Annamaria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219843/
https://www.ncbi.nlm.nih.gov/pubmed/22547955
http://dx.doi.org/10.2174/138920211797904098

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3219843/
https://www.ncbi.nlm.nih.gov/pubmed/22547955
http://dx.doi.org/10.2174/138920211797904098

Ejemplares similares