Identification and Functional Study of a New Missense Mutation in the Motor Head Domain of Myosin VIIA in a Family with Autosomal Dominant Hearing Impairment (DFNA11)

The MYO7A encodes a protein classified as an unconventional myosin. Here, we present a family with non-syndromic autosomal dominant hearing impairment that clinically resembles other previously published DFNA11 families. Affected members of the family present with an ascending audiogram affecting lo...

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Detalles Bibliográficos
Autores principales: Sang, Qing, Yan, Xukun, Wang, Huan, Feng, Ruizhi, Fei, Xiang, Ma, Duan, Xing, Qinghe, Li, Qiaoli, Zhao, Xinzhi, Jin, Li, He, Lin, Li, Huawei, Wang, Lei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558421/
https://www.ncbi.nlm.nih.gov/pubmed/23383098
http://dx.doi.org/10.1371/journal.pone.0055178

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3558421/
https://www.ncbi.nlm.nih.gov/pubmed/23383098
http://dx.doi.org/10.1371/journal.pone.0055178

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