Article
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Human mutation - 1 Dec 2011
Wang Xia, Wang Hui, Cao Ming, Li Zhe, Chen Xianfeng, Patenia Claire, Gore Athurva, Abboud Emad B, Al-Rajhi Ali A, Lewis Richard A, Lupski James R, Mardon Graeme, Zhang Kun, Muzny Donna, Gibbs Richard A, Chen Rui
Abstract excerpt
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...
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