PRELIMINARY MUTATION ANALYSIS IN THE PHENYLALANINE-HYDROXYLASE GENE IN GREEK PKU AND HPA PATIENTS

Authors
TRAEGERSYNODINOS J KANAVAKIS E KALOGERAKOU M SOULPI K MISSIOUTSANGARAKI S KATTAMIS C
Citation
J. Traegersynodinos et al., PRELIMINARY MUTATION ANALYSIS IN THE PHENYLALANINE-HYDROXYLASE GENE IN GREEK PKU AND HPA PATIENTS, Human genetics, 94(5), 1994, pp. 573-575
Citations number
23
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
94
Issue
5
Year of publication
1994
Pages
573 - 575
Database
ISI
SICI code
0340-6717(1994)94:5<573:PMAITP>2.0.ZU;2-E
Abstract
The presence of nine mutations in the phenylalanine hydroxlase (PAH) g ene, previously described in phenylketonuria (PKU) patients of other M editerranean and European populations, was assessed in 47 Greek PKU an d 3 hyperphenylalaninaemia (HPA) patients. Of the nine mutations inves tigated, only five were detected, characterizing 31% of the PKU allele s in our patients.