Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH

DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene. In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensor...

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Detalles Bibliográficos
Autores principales: Gu, Xiaodong, Su, Wenling, Tang, Mingliang, Guo, Luo, Zhao, Liping, Li, Huawei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223038/
https://www.ncbi.nlm.nih.gov/pubmed/28116169
http://dx.doi.org/10.1155/2016/5310192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223038/
https://www.ncbi.nlm.nih.gov/pubmed/28116169
http://dx.doi.org/10.1155/2016/5310192

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