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Article

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

European journal of human genetics : EJHG - 1 Apr 1999

Desviat L R, Pérez B, Gámez A, Sánchez A, García M J, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello M L, Ugarte M

Abstract excerpt

We present an extensive study of the genetic diversity of phenylalanine hydroxylase deficiency in the Spanish phenylketonuria population. We have analysed 195 PKU patients by DGGE analysis identifying 67 different mutations which represent 89% of the total mutant chromosomes. Seventeen mutations first described in Spain have not yet been detected elsewhere; ten of these are reported here for the first time. The...

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PMID: 10234516
DOI: 10.1038/sj.ejhg.5200312

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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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