The genetic architecture of Stargardt macular dystrophy (STGD1): a longitudinal 40-year study in a genetic isolate

Stargardt disease (STGD1) is a form of inherited retinal dystrophy attributed to variants affecting function of the large ABCA4 gene and is arguably the most complex monogenic disease. Therapeutic trials in patients depend on identifying causal ABCA4 variants in trans, which is complicated by extrem...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Green, Jane S., O’Rielly, Darren D., Pater, Justin A., Houston, Jim, Rajabi, Hoda, Galutira, Dante, Benteau, Tammy, Sheaves, Amy, Abdelfatah, Nelly, Bautista, Donna, Whelan, Jim, Young, Terry-Lynn
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7316815/
https://ncbi.nlm.nih.gov/pubmed/32467599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0581-4
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados