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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Hum Mutat
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
Schlagworte:
Article
Online Zugang: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: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge