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Article

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Scientific reports - 6 May 2015

Saqib Muhammad Arif Nadeem, Nikopoulos Konstantinos, Ullah Ehsan, Sher Khan Falak, Iqbal Jamila, Bibi Rabia, Jarral Afeefa, Sajid Sundus, Nishiguchi Koji M, Venturini Giulia, Ansar Muhammad, Rivolta Carlo

Abstract excerpt

Inherited retinal dystrophies are phenotypically and genetically heterogeneous. This extensive heterogeneity poses a challenge when performing molecular diagnosis of patients, especially in developing countries. In this study, we applied homozygosity mapping as a tool to reduce the complexity given by genetic heterogeneity and identify disease-causing variants in consanguineous Pakistani pedigrees. DNA samples...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25943428
DOI: 10.1038/srep09965
PMCID: PMC4421863

Genes

CNGA3
CNGB1
CNGB3
RHO
RPGRIP1

Variants

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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