Exome capture sequencing identifies a novel mutation in BBS4

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 approach combi...

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Veröffentlicht in:	Molecular vision 2011-12, Vol.17, p.3529-3540
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Animals Bardet-Biedl syndrome Base Sequence Blindness Cell culture Chromosome Mapping Consanguinity Danio rerio DNA sequencing Exome Exons Eye Female Gene mapping Genomes Genotype Genotyping High-Throughput Nucleotide Sequencing Hospitals Humans Immunofluorescence Infant Leber Congenital Amaurosis - genetics Leber Congenital Amaurosis - metabolism Leber Congenital Amaurosis - pathology Male Missense mutation Molecular Sequence Data Mutation, Missense Pedigree Polymorphism, Single Nucleotide Proteins - genetics Proteins - metabolism Retina Retina - metabolism Retina - pathology retinal degeneration Rhodopsin Rhodopsin - metabolism Saudi Arabia Single-nucleotide polymorphism Vision Zebrafish
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