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Article

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

Human mutation - 1 Apr 2003

Zschocke Johannes, Preusse Astrid, Sarnavka Vladimir, Fumic Ksenija, Mardesic Dusko, Hoffmann Georg F, Baric Ivo

Abstract excerpt

We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes. The commonest mutation, R408W on haplotype 2 was found with a relative frequency of 37 %. P281L accounted for 11 %, R261Q and...

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Identifiers

PMID: 12655552
DOI: 10.1002/humu.9115

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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