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A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
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.
Affiliation
  • Azam M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Mol Vis ; 15: 2526-34, 2009 Dec 03.
Article in En | MEDLINE | ID: mdl-19960070
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhodopsin / Retinitis Pigmentosa / Amino Acid Substitution / Asian People / Genes, Recessive / Homozygote / Mutation Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2009 Document type: Article Affiliation country: Pakistan Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Rhodopsin / Retinitis Pigmentosa / Amino Acid Substitution / Asian People / Genes, Recessive / Homozygote / Mutation Limits: Female / Humans / Male Country/Region as subject: Asia Language: En Journal: Mol Vis Journal subject: BIOLOGIA MOLECULAR / OFTALMOLOGIA Year: 2009 Document type: Article Affiliation country: Pakistan Country of publication: United States