Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease

Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequenc...

Descripción completa

Detalles Bibliográficos
Autores principales: Xiang, Qin, Cao, Yanna, Xu, Hongbo, Guo, Yi, Yang, Zhijian, Xu, Lu, Yuan, Lamei, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331664/
https://www.ncbi.nlm.nih.gov/pubmed/30563929
http://dx.doi.org/10.1042/BSR20180872

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6331664/
https://www.ncbi.nlm.nih.gov/pubmed/30563929
http://dx.doi.org/10.1042/BSR20180872

Ejemplares similares