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

Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

1 Jul 1999

Abstract excerpt

Editor—Galactosaemia is an autosomal recessively inherited metabolic disorder caused by a defect in the galactose-1-phosphate uridyltransferase (GALT) enzyme. Absence or severe reduction of GALT activity results in classical galactosaemia (G/G) while an approximately half reduction of enzyme activity leads to the Duarte variant of galactosaemia (D/D). Mutation Q188R was found to be the most common molecular...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Enzymes and Metabolism
Share to Metabolism and Genetic Disorders
Share to Neonatal Health and Biochemistry

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 10424825
DOI: 10.1136/jmg.36.7.576

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) allelesPMID 10424825Read ↗

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: identification of six novel mutations, including a stop codon mutation (X380R).Semantic proximity Read ↗

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.Semantic proximity Read ↗

Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.Semantic proximity Read ↗

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

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

Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.Semantic proximity Read ↗

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.Semantic proximity Read ↗

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.Semantic proximity Read ↗

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.Semantic proximity Read ↗

Frequency distribution of Q188R, N314D, Duarte 1, and Duarte 2 GALT variant alleles in an Indian galactosemia population.Semantic proximity Read ↗

Mutational spectrum of classical galactosaemia in Spain and Portugal.Semantic proximity Read ↗

Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

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