Article
Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.
American journal of human genetics - 2 Feb 2017
Arno Gavin, Carss Keren J, Hull Sarah, Zihni Ceniz, Robson Anthony G, Fiorentino Alessia, Hardcastle Alison J, Holder Graham E, Cheetham Michael E, Plagnol Vincent, Moore Anthony T, Raymond F Lucy, Matter Karl, Balda Maria S, Webster Andrew R
Abstract excerpt
Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum of pathways. The presence of unsolved families after highly parallel sequencing strategies suggests that further genes remain to be identified. Whole-exome and -genome sequencing studies employed here in large cohorts of affected individuals revealed biallelic mutations in ARHGEF18...
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