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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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Pubblicato in:Mol Vis
Autori principali: Zhang, Jianping, Qi, Anhui, Wang, Xi, Pan, Hong, Mo, Haiming, Huang, Jiwei, Li, Honghui, Chen, Zhenwen, Wei, Meirong, Wang, Binbin
Natura: Artigo
Lingua:Inglês
Pubblicazione: Molecular Vision 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5204459/
https://ncbi.nlm.nih.gov/pubmed/28050124
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