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Article

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.

Investigative ophthalmology & visual science - 1 Jul 2005

Riazuddin S Amer, Zulfiqar Fareeha, Zhang Qingjiong, Sergeev Yuri V, Qazi Zaheeruddin A, Husnain Tayyab, Caruso Rafael, Riazuddin Sheikh, Sieving Paul A, Hejtmancik J Fielding

Abstract excerpt

PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa in three consanguineous Pakistani families. METHODS: Blood samples were collected and DNA was extracted. A genome-wide scan was performed by using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. RESULTS: A genome-wide scan of...

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PMID: 15980210
DOI: 10.1167/iovs.04-1280

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