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Article

The molecular basis of phenylketonuria in Lithuania.

Human mutation - 1 Apr 2003

Kasnauskiene J, Giannattasio S, Lattanzio P, Cimbalistiene L, Kucinskas V

Abstract excerpt

We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosomes were analysed by scanning the whole coding sequence of PAH gene by multiplex 'broad range'...

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Identifiers

PMID: 12655550
DOI: 10.1002/humu.9113

Genes

PAH

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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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