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A de novo phenylketonuria mutation: ATG (met) to ATA (ile) in the start codon of the phenylalanine hydroxylase gene

✍ Scribed by Hans Geir Eiken; Per M. Knappskog; Jaran Apold; Leif Skjelkvåle; Helge Boman

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 314 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010507

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✦ Synopsis

We here describe the detection of a de novo mutation in the phenylalanine hydroxylase gene in a Norwegian phenylketonuria (PKU) patient. This novel mutation, MlI, disrupts the start codon of the gene by a G to A transition. The compound heterozygote genotype (IVS-lZ/MlI) of this patient predicts that no phenylalanine hydroxylase enzyme is formed, thus leading to a severe classical PKU. Determination of haplotypes and DNA fingerprint patterns indicates a paternal origin of the de novo mutation. Q 1992 Wilev-Lis, hc.

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