A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa

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...

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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Molecular Vision 2009
Schlagworte:
Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787306/
https://ncbi.nlm.nih.gov/pubmed/19960070
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