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Identification of Genetic Defects in 33 Probands with Stargardt Disease by WES-Based Bioinformatics Gene Panel Analysis

Stargardt disease (STGD) is the most common hereditary macular degeneration in juveniles, with loss of central vision occurring in the first or second decade of life. The aim of this study is to identify the genetic defects in 33 probands with Stargardt disease. Clinical data and genomic DNA were co...

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Detalles Bibliográficos
Autores principales: Xin, Wei, Xiao, Xueshan, Li, Shiqiang, Jia, Xiaoyun, Guo, Xiangming, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498695/
https://www.ncbi.nlm.nih.gov/pubmed/26161775
http://dx.doi.org/10.1371/journal.pone.0132635