Article
Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
Molecular vision - 1 Jan 2011
Ali Shahbaz, Riazuddin S Amer, Shahzadi Amber, Nasir Idrees A, Khan Shaheen N, Husnain Tayyab, Akram Javed, Sieving Paul A, Hejtmancik J Fielding, Riazuddin Sheikh
Abstract excerpt
PURPOSE: This study was designed to identify pathogenic mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS: Two consanguineous families affected with autosomal recessive RP were identified from the Punjab Province of Pakistan. All affected individuals underwent a thorough ophthalmologic examination. Blood samples were collected, and genomic DNAs were...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.