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Article

Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.

Molecular vision - 26 Aug 2003

Maraini Giovanni, Hejtmancik J Fielding, Shiels Alan, Mackay Donna S, Aldigeri Raffaella, Jiao Xiao D, Williams Sally L, Sperduto Robert D, Reed George

Abstract excerpt

PURPOSE: To investigate possible associations between sequence changes in the galactokinase gene (GALK1) and age-related cataract in a European population. METHODS: Persons without lens opacities and persons with clinically significant age-related cataract were selected from those participating in the Collaborative Italian-American Clinical Trial of Nutritional Supplements and Age-Related Cataract or from those...

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Identifiers

PMID: 12942049

Genes

GALK1

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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Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population.PMID 12942049Read ↗

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Novel mutations in the GALK1 gene in patients with galactokinase deficiency.Semantic proximity Read ↗

Autosomal recessive congenital cataract in consanguineous Pakistani families is associated with mutations in GALK1.Semantic proximity Read ↗

Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Semantic proximity Read ↗

A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, "Osaka," in Asians.Semantic proximity Read ↗

The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.Semantic proximity Read ↗

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.Semantic proximity Read ↗

The link between apolipoprotein E, presenilin 1, and kinesin light chain 1 gene polymorphisms and age-related cortical cataracts in the Chinese population.Semantic proximity Read ↗

A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies).Semantic proximity Read ↗

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