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 analysis in newborns from Texas affected with galactosemia.

Human mutation - 1 Jan 2002

Yang Y P, Corley N, Garcia-Heras J

Abstract excerpt

The spectrum of mutations in the Galactose-1-phosphate uridyl transferase (GALT) gene is described in 11 cases of classic galactosemia and 38 of Duarte-2 type identified by the Texas Newborn Screening Program. Blinded studies were done by automated DNA sequencing of all the 11 exons and the exon-intron boundaries of the GALT gene using genomic DNA isolated from dry blood spots. Fourteen different mutations (11...

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Galactosemias
Share to GALT gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 11754113
DOI: 10.1002/humu.9005

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular analysis in newborns from Texas affected with galactosemia.PMID 11754113Read ↗

Identification of galactose-1-phosphate uridyl transferase gene common mutations in dried blood spots.Semantic proximity Read ↗

Large-scale molecular screening for galactosemia alleles in a pan-ethnic population.Semantic proximity Read ↗

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.Semantic proximity Read ↗

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

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 ↗

Mutational analysis of the GALT gene in Filipino patients.Semantic proximity Read ↗

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

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

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

Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.Semantic proximity Read ↗

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.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 ↗

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