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Article

Distributions of phenylalanine hydroxylase mutations and haplotypes in Lithuanian phenylketonuria patients.

Human heredity - 1 Jan 2000

Kucinskas V, Jurgelevicius V, Cimbalistiene L, Holmgren G

Abstract excerpt

The distribution of phenylketonuria (PKU) mutations and haplotypes was studied in a sample of 50 families with at least one PKU child detected through the Lithuanian neonatal screening program from 1975 to 1992. Mutations were identified on 84 of the 100 alleles. Three mutations (R408W, R158Q, R261Q) together accounted for 78% of all chromosomes studied. The mutations IVS12nt1, IVS10nt546, 6272X, Q232Q were very...

Topics

Female
Genotype
Haplotypes
Heterozygote
Homozygote
Humans
Lithuania
Male
Mutation
Pedigree
Phenylalanine Hydroxylase
Phenylketonurias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 8188310
DOI: 10.1159/000154200

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8188310-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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