Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC3943164 | biostudies-literature | 2011 Dec
REPOSITORIES: biostudies-literature
Wang Xia X Wang Hui H Cao Ming M Li Zhe Z Chen Xianfeng X Patenia Claire C Gore Athurva A Abboud Emad B EB Al-Rajhi Ali A AA Lewis Richard A RA Lupski James R JR Mardon Graeme G Zhang Kun K Muzny Donna D Gibbs Richard A RA Chen Rui R
Human mutation 20110923 12
It has been well documented that mutations in the same retinal disease gene can result in different clinical phenotypes due to difference in the mutant allele and/or genetic background. To evaluate this, a set of consanguineous patient families with Leber congenital amaurosis (LCA) that do not carry mutations in known LCA disease genes was characterized through homozygosity mapping followed by targeted exon/whole-exome sequencing to identify genetic variations. Among these families, a total of f ...[more]