Article
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
Molecular vision - 3 Dec 2009
Azam Maleeha, Khan Muhammad Imran, Gal Andreas, Hussain Alamdar, Shah Syed Tahir Abbas, Khan Muhammad Shakil, Sadeque Ahmed, Bokhari Habib, Collin Rob W J, Orth Ulrike, van Genderen Maria M, den Hollander A I, Cremers Frans P M, Qamar Raheel
Abstract excerpt
PURPOSE: To identify the gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in Pakistani families. METHODS: A cohort of consanguineous families with typical RP phenotype in patients was screened by homozygosity mapping using microsatellite markers that mapped close to 21 known arRP genes and five arRP loci. Mutation analysis was performed by direct sequencing of the candidate gene....
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