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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Zhou, Yu, Tao, Siyu, Chen, Hui, Huang, Lulin, Zhu, Xiong, Li, Youping, Wang, Zhili, Lin, He, Hao, Fang, Yang, Zhenglin, Wang, Liya, Zhu, Xianjun
التنسيق: Artigo
اللغة:Inglês
منشور في: Public Library of Science 2014
الموضوعات:
Research Article
الوصول للمادة أونلاين: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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