Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

Inherited retinal dystrophies (iRDs) are a group of genetically and clinically heterogeneous conditions resulting from mutations in over 250 genes. Here, homozygosity mapping and whole-exome sequencing (WES) in a consanguineous family revealed a homozygous missense mutation, c.973C>T (p.His325Tyr...

Descripción completa

Detalles Bibliográficos
Autores principales: Coppieters, Frauke, Ascari, Giulia, Dannhausen, Katharina, Nikopoulos, Konstantinos, Peelman, Frank, Karlstetter, Marcus, Xu, Mingchu, Brachet, Cécile, Meunier, Isabelle, Tsilimbaris, Miltiadis K., Tsika, Chrysanthi, Blazaki, Styliani V., Vergult, Sarah, Farinelli, Pietro, Van Laethem, Thalia, Bauwens, Miriam, De Bruyne, Marieke, Chen, Rui, Langmann, Thomas, Sui, Ruifang, Meire, Françoise, Rivolta, Carlo, Hamel, Christian P., Leroy, Bart P., De Baere, Elfride
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974088/
https://www.ncbi.nlm.nih.gov/pubmed/27486781
http://dx.doi.org/10.1016/j.ajhg.2016.06.017

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974088/
https://www.ncbi.nlm.nih.gov/pubmed/27486781
http://dx.doi.org/10.1016/j.ajhg.2016.06.017

Ejemplares similares