Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Inherited retinal dystrophies (IRDs) are clinically and genetically highly heterogeneous, making clinical diagnosis difficult. The advances in high-throughput sequencing (ie, panel, exome and genome sequencing) have proven highly effective on defining the molecular basis of these disorders by identi...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Skorczyk-Werner, Anna, Chiang, Wei-Chieh, Wawrocka, Anna, Wicher, Katarzyna, Jarmuż-Szymczak, Małgorzata, Kostrzewska-Poczekaj, Magdalena, Jamsheer, Aleksander, Płoski, Rafał, Rydzanicz, Małgorzata, Pojda-Wilczek, Dorota, Weisschuh, Nicole, Wissinger, Bernd, Kohl, Susanne, Lin, Jonathan H, Krawczyński, Maciej R
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5643965/
https://ncbi.nlm.nih.gov/pubmed/28812650
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.131
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados