Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population

OBJECTIVES: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METH...

Descripción completa

Detalles Bibliográficos
Autores principales: Huang, Lulin, Mao, Yao, Yang, Jiyun, Li, Yuanfeng, Li, Yang, Yang, Zhenglin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189035/
https://www.ncbi.nlm.nih.gov/pubmed/29899460
http://dx.doi.org/10.1038/s41433-018-0130-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6189035/
https://www.ncbi.nlm.nih.gov/pubmed/29899460
http://dx.doi.org/10.1038/s41433-018-0130-3

Ejemplares similares