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Article

[Molecular genetic aspects of phenylketonuria (PKU)].

Tijdschrift voor kindergeneeskunde - 1 Jun 1991

Giltay J C, van Hoef A M, de Weger R, Duran M, Berger R, Beemer F A

Abstract excerpt

In phenylketonuria (PKU) usually there is a defect in the phenylalanine hydroxylase (PAH) gene. Eight restriction fragment length polymorfisms (RFLP's) in the PAH gene together constitute the haplotype. A considerable number of mutations, responsible for the gene defect, some of which are rather frequent, have been described. Here, we present the first results of investigations on the distribution of haplotypes...

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Source

Identifiers

PMID: 1677790

Genes

PAH

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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