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Article

[Genetic heterogeneity and approaches to the prenatal diagnosis of phenylketonuria (review)].

Voprosy meditsinskoi khimii - 1 Jan 2000

Chestkov V V, Shishkin S S

Abstract excerpt

Analysis of the data on structure polymorphism of phenylalanine hydroxylase in mammals including man is of importance in elucidation of the enzyme structural alterations in the patients with phenylketonuria. Molecular-genetic approaches are developed for prenatal diagnosis of hereditary diseases;...

Topics

DNA
DNA Restriction Enzymes
Female
Fetal Diseases
Genetic Markers
Genetic Variation
Humans
Liver
Mutation
Phenylalanine Hydroxylase
Phenylketonurias
Polymorphism, Genetic
Pregnancy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

Source

Identifiers

PMID: 3020793

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-3020793-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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