Exome capture sequencing identifies a novel mutation in BBS4

PURPOSE: Leber congenital amaurosis (LCA) is one of the most severe eye dystrophies characterized by severe vision loss at an early stage and accounts for approximately 5% of all retinal dystrophies. The purpose of this study was to identify a novel LCA disease allele or gene and to develop an appro...

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Detalles Bibliográficos
Autores principales: Wang, Hui, Chen, Xianfeng, Dudinsky, Lynn, Patenia, Claire, Chen, Yiyun, Li, Yumei, Wei, Yue, Abboud, Emad B., Al-Rajhi, Ali A., Lewis, Richard Alan, Lupski, James R., Mardon, Graeme, Gibbs, Richard A., Perkins, Brian D., Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3250376/
https://www.ncbi.nlm.nih.gov/pubmed/22219648

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