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

Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.

Clinical biochemistry - 1 Mar 2007

Lukac-Bajalo Jana, Kuzelicki Natasa Karas, Zitnik Irena Prodan, Mencej Simona, Battelino Tadej

Abstract excerpt

OBJECTIVES: To analyze a healthy Slovenian population for the frequency of the classical galactosemia allele K285N. DESIGN AND METHODS: DNA was analyzed by means of polymerase chain reaction and restriction fragment length polymorphism. RESULTS: The allele frequency of the K285N mutation in Slovenian population is 0.29%. CONCLUSIONS: The allele frequency of the K285N mutation in Slovenian population is higher...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Galactosemias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Heterozygote

Share to Polymerase Chain Reaction

Share to Polymorphism, Restriction Fragment Length

Share to Slovenia

Share to UTP-Hexose-1-Phosphate Uridylyltransferase

Source

Identifiers

PMID: 17303100
DOI: 10.1016/j.clinbiochem.2006.11.004

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

Higher frequency of the galactose-1-phosphate uridyl transferase gene K285N mutation in the Slovenian population.PMID 17303100Read ↗

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 ↗

Molecular basis and clinical presentation of classic galactosemia in a Croatian population.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 ↗

Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.Semantic proximity Read ↗

The first study of galactose-1-phosphate uridyl transferase mutations in Iranian galactosemia patients.Semantic proximity Read ↗

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

Galactosemia in the Turkish population with a high frequency of Q188R mutation and distribution of Duarte-1 and Duarte-2 variations.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 ↗

The Genetic Basis of Galactosemia in Iranian Patients: Identification of Twenty Novel Mutations in GALT, GALK1 and GALE GeneSemantic proximity Read ↗

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

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

Novel GALT variations and genetic spectrum in Turkish population with the correlation of genotype and phenotype.Semantic proximity Read ↗

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