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Article

Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

American journal of human genetics - 1 Jun 2000

Kidd J R, Pakstis A J, Zhao H, Lu R B, Okonofua F E, Odunsi A, Grigorenko E, Tamir B B, Friedlaender J, Schulz L O, Parnas J, Kidd K K

Abstract excerpt

Because defects in the phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linkage disequilibrium soon after the gene was cloned. Studies in the 1980s concentrated on European populations in which PKU was common and showed that haplotype-frequency variation exists between some regions of the world. In European populations, linkage disequilibrium generally...

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Identifiers

PMID: 10788337
DOI: 10.1086/302952
PMCID: PMC1378054

Genes

PAH

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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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