Mutations in a Novel Isoform of TRIOBP That Encodes a Filamentous-Actin Binding Protein Are Responsible for DFNB28 Recessive Nonsyndromic Hearing Loss

In a large consanguineous Palestinian kindred, we previously mapped DFNB28—a locus associated with recessively inherited, prelingual, profound sensorineural hearing impairment—to chromosome 22q13.1. We report here that mutations in a novel 218-kDa isoform of TRIOBP (TRIO and filamentous actin [F-act...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Shahin, Hashem, Walsh, Tom, Sobe, Tama, Abu Sa’ed, Judeh, Abu Rayan, Amal, Lynch, Eric D., Lee, Ming K., Avraham, Karen B., King, Mary-Claire, Kanaan, Moein
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1380212/
https://ncbi.nlm.nih.gov/pubmed/16385458
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados