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Article

Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.

PloS one - 1 Jan 2015

Maranhao Bruno, Biswas Pooja, Gottsch Alexander D H, Navani Mili, Naeem Muhammad Asif, Suk John, Chu Justin, Khan Sheen N, Poleman Rachel, Akram Javed, Riazuddin Sheikh, Lee Pauline, Riazuddin S Amer, Hejtmancik J Fielding, Ayyagari Radha

Abstract excerpt

PURPOSE: To define the molecular basis of retinal degeneration in consanguineous Pakistani pedigrees with early onset retinal degeneration. METHODS: A cohort of 277 individuals representing 26 pedigrees from the Punjab province of Pakistan was analyzed. Exomes were captured with commercial kits and sequenced on an Illumina HiSeq 2500. Candidate variants were identified using standard tools and analyzed using...

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Identifiers

PMID: 26352687
DOI: 10.1371/journal.pone.0136561
PMCID: PMC4564165

Genes

CERKL
CNGB1
LCA5
RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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