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RFLPs of the phenylalanine hydroxylase gene in the Italian population

✍ Scribed by I. Dianzani; L. Farinasso; P. Fortina; C. Camaschella; R. Ponzone; H-H. M. Dahl; R. G. H. Cotton; A. Ponzone


Book ID
105313276
Publisher
Springer
Year
1989
Tongue
English
Weight
298 KB
Volume
12
Category
Article
ISSN
0141-8955

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This report identifies eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of the mutations, predicted phenotypic effect, and population of origin (Italian region) are as follows: F55L (nonconservative change: classic, m

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A deletion of a single base in codon 55 (exon 2) of the phenylalanine hydroxylase (PAH) gene has been identified by direct DNA sequencing of 94 phenylketonuria (PKU) chromosomes. This mutation alters the reading frame so that a stop signal (TAA) is generated in codon 60 of the PAH gene. Haplotype an