A carregar...

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

PURPOSE: Autosomal recessive retinitis pigmentosa (arRP) is a genetically heterogeneous disease resulting in progressive loss of photoreceptors that leads to blindness. To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygo...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Bocquet, Béatrice, Marzouka, Nour al Dain, Hebrard, Maxime, Manes, Gaël, Sénéchal, Audrey, Meunier, Isabelle, Hamel, Christian P.
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2013
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3857159/
https://ncbi.nlm.nih.gov/pubmed/24339724
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!