Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)

Autor: Pio D'Adamo, Francesca Donaudy, Paolo Gasparini, Elio Marciano, Angela D'Eustacchio, Annamaria Franzè, Maria Vittoria Cubellis, Monica Errichiello, Claudio Saulino, Gennaro Auletta, Pasquale Giannini, Francesca Di Leva, Alfredo Ciccodicola

Publikováno v: Audiology & neuro-otology
11 (2006): 157–164. doi:10.1159/000091199
info:cnr-pdr/source/autori:Di Leva F.; D'Adamo P.; Cubellis M.V.; D'Eustacchio A.; Errichiello M.; Saulino C.; Auletta G.; Giannini P.; Donaudy F.; Ciccodicola A.; Gasparini P.; Franze A.; Marciano E./titolo:Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11)/doi:10.1159%2F000091199/rivista:Audiology & neuro-otology (Print)/anno:2006/pagina_da:157/pagina_a:164/intervallo_pagine:157–164/volume:11

We ascertained a large Italian family with an autosomal dominant form of non-syndromic sensorineural hearing loss with vestibular involvement. A genome-wide scan found linkage to locus DFNA11. Sequencing of the MYO7A gene in the linked region identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02e2d0ed9aca0764453b06095a2578fd
http://hdl.handle.net/11588/364791