Mutations and phenotype in isolated glycerol kinase deficiency.

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Article

Mutations and phenotype in isolated glycerol kinase deficiency.

American journal of human genetics - 1 Jun 1996

Walker A P, Muscatelli F, Stafford A N, Chelly J, Dahl N, Blomquist H K, Delanghe J, Willems P J, Steinmann B, Monaco A P

Abstract excerpt

We demonstrate that isolated glycerol kinase (GK) deficiency in three families results from mutation of the Xp21 GK gene. GK mutations were detected in four patients with widely differing phenotypes. Patient 1 had a splice-site mutation causing premature termination. His general health was good d...

Topics

Abnormalities, Multiple
Adolescent
Alternative Splicing
Base Sequence
Child
Child, Preschool
Chromosome Mapping
DNA Primers
Exons
Fibroblasts
Glycerol Kinase
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Introns

Leukocytes

Male

Middle Aged

Molecular Sequence Data

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8651297
PMCID: PMC1915081

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8651297-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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