Article
A missense mutation in ASRGL1 is involved in causing autosomal recessive retinal degeneration.
Human molecular genetics - 15 Jun 2016
Biswas Pooja, Chavali Venkata Ramana Murthy, Agnello Giulia, Stone Everett, Chakarova Christina, Duncan Jacque L, Kannabiran Chitra, Homsher Melissa, Bhattacharya Shomi S, Naeem Muhammad Asif, Kimchi Adva, Sharon Dror, Iwata Takeshi, Riazuddin Shaikh, Reddy G Bhanuprakash, Hejtmancik J Fielding, Georgiou George, Riazuddin S Amer, Ayyagari Radha
Abstract excerpt
Inherited retinal dystrophies are a group of genetically heterogeneous conditions with broad phenotypic heterogeneity. We analyzed a large five-generation pedigree with early-onset recessive retinal degeneration to identify the causative mutation. Linkage analysis and homozygosity mapping combined with exome sequencing were carried out to map the disease locus and identify the p.G178R mutation in the asparaginase...
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