Article
Autosomal recessive retinitis pigmentosa in a Pakistani family mapped to CNGA1 with identification of a novel mutation.
Molecular vision - 17 Nov 2004
Zhang Qingjiong, Zulfiqar Fareeha, Riazuddin S Amer, Xiao Xueshan, Ahmad Zahoor, Riazuddin Sheikh, Hejtmancik J Fielding
Abstract excerpt
PURPOSE: To map the locus for autosomal recessive retinitis pigmentosa in a large Pakistani family and to determine the causative mutation. METHODS: A large family with multiple individuals affected by autosomal recessive retinitis pigmentosa was ascertained in the Punjab province of Pakistan as part of an ongoing project between the CEMB, Lahore, Pakistan and the NEI to identify genetic causes of eye diseases....
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