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Article

The molecular basis of phenylketonuria in Latvia.

Human mutation - 1 Apr 2003

Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A

Abstract excerpt

Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q, G272X, IVS10-11G>A and R408W mutations were first screened for by PCR or restriction generating PCR amplification of...

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Source

Identifiers

PMID: 12655551
DOI: 10.1002/humu.9114

Genes

PAH

Variants

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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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