Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease

PURPOSE: Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the path...

Descripción completa

Detalles Bibliográficos
Autores principales: Zhang, Jianping, Qi, Anhui, Wang, Xi, Pan, Hong, Mo, Haiming, Huang, Jiwei, Li, Honghui, Chen, Zhenwen, Wei, Meirong, Wang, Binbin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204459/
https://www.ncbi.nlm.nih.gov/pubmed/28050124

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5204459/
https://www.ncbi.nlm.nih.gov/pubmed/28050124

Ejemplares similares