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

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Proceedings of the National Academy of Sciences of the United States of America - 1 Apr 1991

Reichardt J K, Woo S L

Abstract excerpt

We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose metabolism that causes jaundice, cataracts, and mental retardation in humans. The coding region of galactose-1-phosphate uridylyltransferase (GALT; UDPglucose:alpha-D-galactose-1-phosphate uridylyltransferase, EC 2.7.7.12) was amplified by the polymerase chain reaction from total cDNA of a...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Polymorphism, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 2011574
DOI: 10.1073/pnas.88.7.2633
PMCID: PMC51292

Genes

GALT

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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.PMID 2011574Read ↗

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

The human galactose-1-phosphate uridyltransferase gene.Semantic proximity Read ↗

Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.Semantic proximity Read ↗

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.Semantic proximity Read ↗

Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia.Semantic proximity Read ↗

The molecular biology of galactosemia.Semantic proximity Read ↗

The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.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 ↗

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

Structural and molecular biology of type I galactosemia: disease-associated mutations.Semantic proximity Read ↗

GALT Deficiency GalactosemiaSemantic proximity Read ↗

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

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