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

doi:10.1073/pnas.88.7.2633

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

Back to search

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-galact...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cell Line
DNA
Galactosemias
Genes
Genetic Variation
Humans
Molecular Sequence Data
Mutagenesis, Site-Directed
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction
Polymorphism, Genetic
Transfection
UTP-Hexose-1-Phosphate Uridylyltransferase

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 30 Aug 2026. Prepared record publication-2011574-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics