Identification of pathogenic mechanisms of COCH mutations, abolished cochlin secretion and intracellular aggregate formation: genotype-phenotype correlations in DFNA9 deafness and vestibular disorder

Mutations in COCH cause autosomal dominant non-syndromic hearing loss with variable degrees of clinical onset and vestibular malfunction. We selected eight uncharacterized mutations and performed immunocytochemical and Western blot analyses to track cochlin through the secretory pathway. We then per...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Bae, Seung-Hyun, Robertson, Nahid G., Cho, Hyun-Ju, Morton, Cynthia C., Jung, Da Jung, Baek, Jeong-In, Choi, Soo-Young, Lee, Jaetae, Lee, Kyu-Yup, Kim, Un-Kyung
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4373469/
https://ncbi.nlm.nih.gov/pubmed/25230692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22701
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados