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[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; approaches for studies on the phenylketonuria genetic heterogeneity have to be developed. The most promising methods...

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PMID: 3020793

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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