Mutations in the β-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa

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 i...

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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Molecular Vision 2011
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Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3108895/
https://ncbi.nlm.nih.gov/pubmed/21655355
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