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Article

An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Nature - 1 Jan 2000

DiLella A G, Marvit J, Brayton K, Woo S L

Abstract excerpt

Phenylketonuria (PKU) is an autosomal recessive human genetic disorder caused by a deficiency of hepatic phenylalanine hydroxylase (PAH, phenylalanine 4-monooxygenase, EC 1.14.16.1). PKU is a common inborn error of amino-acid metabolism in caucasian populations and approximately 1 in 50 individuals are carriers of a PKU allele. To define the molecular basis of PKU, we characterized twelve restriction...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 2884570
DOI: 10.1038/327333a0

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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An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.PMID 2884570Read ↗

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