Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genom...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Arno, Gavin, Carss, Keren J., Hull, Sarah, Zihni, Ceniz, Robson, Anthony G., Fiorentino, Alessia, Hardcastle, Alison J., Holder, Graham E., Cheetham, Michael E., Plagnol, Vincent, Moore, Anthony T., Raymond, F. Lucy, Matter, Karl, Balda, Maria S., Webster, Andrew R.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5294887/
https://ncbi.nlm.nih.gov/pubmed/28132693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.12.014
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados