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Article

Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2011

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

Abstract excerpt

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. Blood samples were collected from all participating family members, and genomic DNA was extracted. A genome-wide...

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Source

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Identifiers

PMID: 21987678
DOI: 10.1001/archophthalmol.2011.267
PMCID: PMC3463811

Genes

TULP1

Variants

Provenance

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