A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

PURPOSE: Hearing loss is genetically extremely heterogeneous, making it suitable for next-generation sequencing (NGS). We identified a four-generation family with nonsyndromic mild to severe hearing loss of the mid- to high frequencies and onset from early childhood to second decade in seven members...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Eisenberger, Tobias, Di Donato, Nataliya, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nürnberg, Gudrun, Toliat, Mohammad, Nürnberg, Peter, Mürbe, Dirk, Bolz, Hanno Jörn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2018
Assuntos:
Original Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5993672/
https://ncbi.nlm.nih.gov/pubmed/29309402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2017.155
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados