Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Hearing Loss

COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Booth, Kevin T, Ghaffar, Amama, Rashid, Muhammad, Hovey, Luke T, Hussain, Mureed, Frees, Kathy, Renkes, Erika M, Nishimura, Carla J, Shahzad, Mohsin, Smith, Richard J, Ahmed, Zubair, Azaiez, Hela, Riazuddin, Saima
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7572817/
https://ncbi.nlm.nih.gov/pubmed/32562050
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-020-02197-5
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados