Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.

BMC medical genetics - 24 Mar 2009

Park Hyung-Doo, Kim Yoon-Kyoung, Park Kyoung Un, Kim Jin Q, Song Young-Han, Song Junghan

Abstract excerpt

BACKGROUND: Many genetic variations of GALK1 have been identified in the patients with galactokinase (GALK1) deficiency. However, the molecular characteristics of GALK1 in individuals with elevated GALK1 activity are relatively unknown. METHODS: We investigated the relationship between elevated G...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Electrophoretic Mobility Shift Assay
Share to Galactokinase
Share to Galactosemias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Reporter

Share to Infant, Newborn

Share to Neonatal Screening

Share to Polymorphism, Restriction Fragment Length

Share to Promoter Regions, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 19309526
DOI: 10.1186/1471-2350-10-29
PMCID: PMC2667498

Genes

GALK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19309526-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel c.-22T>C mutation in GALK1 promoter is associated with elevated galactokinase phenotype.PMID 19309526Read ↗

Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency.Semantic proximity Read ↗

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

Promoter polymorphism in PCK1 (phosphoenolpyruvate carboxykinase gene) associated with type 2 diabetes mellitus.Semantic proximity Read ↗

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.Semantic proximity Read ↗

Identification of a novel variant in the phosphoenolpyruvate carboxykinase gene promoter in Japanese patients with type 2 diabetes.Semantic proximity Read ↗

Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.Semantic proximity Read ↗

Identification of mutations in the galactose-1-phosphate uridyltransferase (GALT) gene in 16 Turkish patients with galactosemia, including a novel mutation of F294Y. Mutation in brief no. 235. Online.Semantic proximity Read ↗

Molecular basis for phenotypic heterogeneity in galactosaemia: prediction of clinical phenotype from genotype in Japanese patients.Semantic proximity Read ↗

Novel mutations in 13 probands with galactokinase deficiency.Semantic proximity Read ↗

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Semantic proximity Read ↗

Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

Molecular and biochemical characterization of the GALT gene in Korean patients with galactose-1-phosphate uridyltransferase deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.