Association of Pathogenic Mutations in TULP1 With Retinitis Pigmentosa in Consanguineous Pakistani Families

OBJECTIVE: To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families. METHODS: Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. B...

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Hauptverfasser: Iqbal, Muhammad, Naeem, Muhammad Asif, Riazuddin, S. Amer, Ali, Shahbaz, Farooq, Tahir, Qazi, Zaheeruddin A., Khan, Shaheen N., Husnain, Tayyab, Riazuddin, Saima, Sieving, Paul A., Hejtmancik, J. Fielding, Riazuddin, Sheikh
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3463811/
https://ncbi.nlm.nih.gov/pubmed/21987678
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/archophthalmol.2011.267
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