A carregar...

Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data

Retinitis pigmentosa (RP) is an inherited retinal disease with a prevalence of 1/4,000. RP is highly genetically heterogeneous and there are over 80 genes associated with RP to date. One particular USH2A variant, p.C759F, has long been reported in RP cases but its pathogenicity was questioned by a r...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Ophthalmic Genet
Main Authors: DuPont, Mariana, Jones, Evan M., Xu, Mingchu, Chen, Rui
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6084783/
https://ncbi.nlm.nih.gov/pubmed/29283788
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810.2017.1418388
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!