A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Defects in USH2A cause both isolated retinal disease and Usher syndrome (ie, retinal disease and deafness). To gain insights into isolated/nonsyndromic USH2A retinopathy, we screened USH2A in 186 probands with recessive retinal disease and no hearing complaint in childhood (discovery cohort) and in...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Lenassi, Eva, Vincent, Ajoy, Li, Zheng, Saihan, Zubin, Coffey, Alison J, Steele-Stallard, Heather B, Moore, Anthony T, Steel, Karen P, Luxon, Linda M, Héon, Elise, Bitner-Glindzicz, Maria, Webster, Andrew R
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4592079/
https://ncbi.nlm.nih.gov/pubmed/25649381
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.283
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados