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Article

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

Molecular vision - 1 Jan 2013

Kabir Firoz, Naz Shagufta, Riazuddin S Amer, Naeem Muhammad Asif, Khan Shaheen N, Husnain Tayyab, Akram Javed, Sieving Paul A, Hejtmancik J Fielding, Riazuddin Sheikh

Abstract excerpt

PURPOSE: To identify pathogenic mutations responsible for retinal dystrophy in three consanguineous Pakistani families. METHODS: A thorough ophthalmic examination including fundus examination and electroretinography was performed, and blood samples were collected from all participating members. Genomic DNA was extracted, and genome-wide linkage and/or exclusion analyses were completed with fluorescently labeled...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23878505
PMCID: PMC3716412

Genes

RPE65

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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