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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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Vydáno v:J Mol Med (Berl)
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup: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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