Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease

Stargardt disease is the most common cause of juvenile macular dystrophy. Five subjects from a two-generation Chinese family with Stargardt disease are reported in this study. All family members underwent complete ophthalmologic examinations. Patients of the family initiated the disease during child...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Zhou, Yu, Tao, Siyu, Chen, Hui, Huang, Lulin, Zhu, Xiong, Li, Youping, Wang, Zhili, Lin, He, Hao, Fang, Yang, Zhenglin, Wang, Liya, Zhu, Xianjun
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2014
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3954841/
https://ncbi.nlm.nih.gov/pubmed/24632595
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0091962
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