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Article

Molecular characterization of phenylalanine hydroxylase deficiency in Chile. Mutations in brief no. 243. Online.

Human mutation - 1 Jan 1999

Pérez B, Desviat L R, De Lucca M, Cornejo V, Raimann E, Ugarte M

Abstract excerpt

Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application of the DGGE scanning method in the remaining uncharacterized alleles. A total of 16 different mutations have been...

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Source

Identifiers

PMID: 10408782
DOI: 10.1002/(SICI)1098-1004(1999)13:6<503::AID-HUMU12>3.0.CO;2-I

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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