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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Molecular Vision 2009
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC2787306/
https://ncbi.nlm.nih.gov/pubmed/19960070
Tagiau: Ychwanegu Tag
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