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Article

Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Human genetics - 1 Oct 1993

Desviat L R, Pérez B, Ugarte M

Abstract excerpt

In order to investigate the molecular basis of phenylketonuria (PKU) in Spain, we analyzed the restriction fragment length polymorphism (RFLP) haplotypes and common mutations in the phenylalanine hydroxylase (PAH) gene in 32 unrelated Spanish PKU families. The distribution of RFLP haplotypes differs from that of northern Europe. Mutant haplotypes 2 and 3 were completely absent in our sample. Approximately 65% of...

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Source

Identifiers

PMID: 8104860
DOI: 10.1007/BF00244468

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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