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Article

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.

Molecular vision - 15 Apr 2010

Yasmeen Afshan, Riazuddin S Amer, Kaul Haiba, Mohsin Sadia, Khan Mohsin, Qazi Zaheeruddin A, Nasir Idrees A, Zafar Ahmad U, Khan Shaheen N, Husnain Tayyab, Akram Javed, Hejtmancik J Fielding, Riazuddin Sheikh

Abstract excerpt

PURPOSE: To identify the pathogenic mutations responsible for autosomal recessive congenital cataracts in consanguineous Pakistani families. METHODS: All affected individuals underwent detailed ophthalmologic and medical examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was performed with polymorphic microsatellite markers on genomic DNA from affected and unaffected...

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Identifiers

PMID: 20405025
PMCID: PMC2855732

Genes

GALK1

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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