Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.

doi:10.1038/ng0795-307

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Article

Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts.

Nature genetics - 1 Jul 1995

Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma D J

Abstract excerpt

Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresse...

Topics

Adult
Amino Acid Sequence
Bacteria
Base Sequence
Cataract
Cell Line
Cloning, Molecular
DNA Primers
DNA, Complementary
Female
Galactokinase
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Molecular Sequence Data
Mutation
Sequence Homology, Amino Acid

Source

Open in PubMed

Identifiers

PMID: 7670469
DOI: 10.1038/ng0795-307

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7670469-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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