Article
Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
Molecular vision - 26 Oct 2006
Riazuddin S Amer, Zulfiqar Fareeha, Zhang Qingjiong, Yao Wenliang, Li Shouling, Jiao Xiaodong, Shahzadi Amber, Amer Muhammad, Iqbal Muhammad, Hussnain Tayyab, Sieving Paul A, Riazuddin Sheikh, Hejtmancik J Fielding
Abstract excerpt
PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted...
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