Nonsense mutation in MERTK causes autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

BACKGROUND: Retinitis pigmentosa (RP) is one of the most common ophthalmic disorders affecting one in approximately 5000 people worldwide. A nuclear family was recruited from the Punjab province of Pakistan to study the genetic basis of autosomal recessive RP. METHODS: All affected individuals under...

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Auteurs principaux: Shahzadi, Amber, Riazuddin, S Amer, Ali, Shahbaz, Li, David, Khan, Shaheen N, Husnain, Tayyab, Akram, Javed, Sieving, Paul A, Hejtmancik, J Fielding, Riazuddin, Sheikh
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3393880/
https://ncbi.nlm.nih.gov/pubmed/20538656
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjo.2009.171892
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