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...

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Bibliographic Details
Published in:Mol Vis
Main Authors: Zhang, Jianping, Qi, Anhui, Wang, Xi, Pan, Hong, Mo, Haiming, Huang, Jiwei, Li, Honghui, Chen, Zhenwen, Wei, Meirong, Wang, Binbin
Format: Artigo
Language:Inglês
Published: Molecular Vision 2016
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5204459/
https://ncbi.nlm.nih.gov/pubmed/28050124
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