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Article

Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.

Archives of medical research - 1 Jan 1995

Nicolini H, Cruz C, Camarena B, Fernanda Merino M, Bilbao G, Vela M, Velázquez A, Pérez B, Desviat L, Ugarte M

Abstract excerpt

The molecular analysis of the human phenylalanine hydroxylase (PAH) gene in Mexican phenylketonuric (PKU) patients is described. We analyzed the restriction fragment length polymorphism (RFLP) haplotypes of five probands and ten non-affected relatives, belonging to four unrelated PKU families. Twenty-nine alleles were typified, corresponding to 12 different haplotypes. Eight RFLP haplotypes corresponded to those...

Topics

Female
Genetic Carrier Screening
Genetic Heterogeneity
Haplotypes
Humans
Male
Mexico
Mutation
Pedigree
Phenylalanine Hydroxylase
Phenylketonurias

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 7711448

Genes

PAH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7711448-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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