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Analysis of exon 7 of the human phenylalanine hydroxylase gene: A mutation hot spot?

✍ Scribed by Bernd Dworniczak; Luba Kalaydjieva; Sabine Pankoke; Christa Aulehla-Scholz; Gregory Allen; Jürgen Horst

Publisher
John Wiley and Sons
Year
1992
Tongue
English
Weight
839 KB
Volume
1
Category
Article
ISSN
1059-7794

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✦ Synopsis

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A direct mutational analysis of the phenylalanine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovaki