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Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene

✍ Scribed by B. Dworniczak; L. Kalaydjieva; C. Aulehla-Scholz; K. Ullrich; I. Kremensky; B. Radeva; J. Horst

Publisher: Springer
Year: 1991
Tongue: English
Weight: 379 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00201735

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✦ Synopsis

A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.

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