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Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene



Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene



Human Genetics 87(6): 731-733



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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Accession: 007728499

Download citation: RISBibTeXText

PMID: 1682234

DOI: 10.1007/bf00201735


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