Article
A mutation in IFT43 causes non-syndromic recessive retinal degeneration.
Human molecular genetics - 1 Dec 2017
Biswas Pooja, Duncan Jacque L, Ali Muhammad, Matsui Hiroko, Naeem Muhammad Asif, Raghavendra Pongali B, Frazer Kelly A, Arts Heleen H, Riazuddin Sheikh, Akram Javed, Hejtmancik J Fielding, Riazuddin S Amer, Ayyagari Radha
Abstract excerpt
The aim of this work is to identify the molecular cause of autosomal recessive early onset retinal degeneration in a consanguineous pedigree. Seventeen members of a four-generation Pakistani family were recruited and underwent a detailed ophthalmic examination. Exomes of four affected and two unaffected individuals were sequenced. Variants were filtered using exomeSuite to identify rare potentially pathogenic...
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