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Article

The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening.

Clinical biochemistry - 1 May 2012

Georgiou Theodoros, Ho Gladys, Vogazianos Marios, Dionysiou Maria, Nicolaou Alexia, Chappa Georgia, Nicolaides Paola, Stylianidou Goula, Christodoulou John, Drousiotou Anthi

Abstract excerpt

OBJECTIVES: The purpose of this study was to identify the mutations responsible for phenylalanine hydroxylase deficiency in Cypriot patients detected through neonatal screening. DESIGN AND METHODS: Analysis of the PAH gene was performed by direct sequencing of the patients' genomic DNA, MLPA analysis and real-time PCR. RESULTS: Among 22 independent alleles thirteen previously described mutations were detected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22330942
DOI: 10.1016/j.clinbiochem.2012.01.026

Genes

PAH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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