A Novel Homozygous Mutation in the EC1/EC2 Interaction Domain of the Gap Junction Complex Connexon 26 Leads to Profound Hearing Impairment

To date, about 165 genetic loci or genes have been identified which are associated with nonsyndromal hearing impairment. In about half the cases, genetic defects in the GJB2 gene (connexin 26) are the most common cause of inner-ear deafness. The genes GJB2 and GJB6 are localized on chromosome 13q11-...

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Detalles Bibliográficos
Autores principales: Birkenhäger, Ralf, Prera, Nicola, Aschendorff, Antje, Laszig, Roland, Arndt, Susan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914288/
https://www.ncbi.nlm.nih.gov/pubmed/24551843
http://dx.doi.org/10.1155/2014/307976

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3914288/
https://www.ncbi.nlm.nih.gov/pubmed/24551843
http://dx.doi.org/10.1155/2014/307976

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