A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain

Mutations in COCH have been associated with autosomal dominant nonsyndromic hearing loss (DFNA9) and are frequently accompanied by vestibular hypofunction. Here, we report identification of a novel missense mutation, p.F527C, located in the vWFA2 domain in members of a Korean family with late-onset...

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Publicado no:J Mol Med (Berl)
Main Authors: Cho, Hyun-Ju, Park, Hong-Joon, Trexler, Maria, Venselaar, Hanka, Lee, Kyu Yup, Robertson, Nahid G., Baek, Jeong-In, Kang, Beom Sik, Morton, Cynthia C., Vriend, Gert, Patthy, László, Kim, Un-Kyung
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4361775/
https://ncbi.nlm.nih.gov/pubmed/22610276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00109-012-0911-2
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