Cargando…
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...
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 |
Ejemplares similares
-
Molecular diagnosis of putative Stargardt disease probands by exome sequencing
por: Strom, Samuel P, et al.
Publicado: (2012) -
X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia
por: Xiao, Xueshan, et al.
Publicado: (2016) -
A novel mutation of PAX6 in Chinese patients with new clinical features of Peters’ anomaly
por: Jia, Xiuhua, et al.
Publicado: (2010) -
Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
por: Fang, Shaohua, et al.
Publicado: (2008) -
Evaluation of the X-linked modifier loci for Leber hereditary optic neuropathy with the G11778A mutation in Chinese
por: Ji, Yanli, et al.
Publicado: (2010)