Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing

Stargardt Disease (STGD) is the commonest genetic form of juvenile or early adult onset macular degeneration, which is a genetically heterogeneous disease. Molecular diagnosis of STGD remains a challenge in a significant proportion of cases. To address this, seven patients from five putative STGD fa...

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Detalles Bibliográficos
Autores principales: Zhang, Xiao, Ge, Xianglian, Shi, Wei, Huang, Ping, Min, Qingjie, Li, Minghan, Yu, Xinping, Wu, Yaming, Zhao, Guangyu, Tong, Yi, Jin, Zi-Bing, Qu, Jia, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3999032/
https://www.ncbi.nlm.nih.gov/pubmed/24763286
http://dx.doi.org/10.1371/journal.pone.0095528

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