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Article

DNA haplotype analyses of patients with hyperphenylalaninemia.

American journal of human genetics - 1 Oct 1990

Di Silvestre D, Pandya A, Koch R, Groffen J

Abstract excerpt

Linkage analysis of phenylketonurics has shown a strong association between the DNA haplotype at the phenylalanine hydroxylase (PAH) locus and phenylketonuria (PKU). Similarly, a genetic linkage between less severe forms of hyperphenylalaninemia (HPA) and the PAH locus has been suggested. In the present study we analyzed this linkage in more detail. Haplotypes at the PAH locus were determined for 19 individuals...

Topics

Alleles
Blotting, Southern
Chi-Square Distribution
DNA
Female
Genetic Linkage
Genotype
Haplotypes
Humans
Lod Score
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenylalanine

Phenylalanine Hydroxylase

Phenylketonurias

Source

Open in PubMed Open full text

Identifiers

PMID: 2220810
PMCID: PMC1683778

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2220810-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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DNA haplotype analyses of patients with hyperphenylalaninemia.PMID 2220810Read ↗

The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.Semantic proximity Read ↗

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Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias.Semantic proximity Read ↗

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Analysis of the molecular variance at the phenylalanine hydroxylase (PAH) locus.Semantic proximity Read ↗

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