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Phenylketonuria in Southern Poland: A new splice mutation in intron 9 at the PAH locus

✍ Scribed by Marta Zygulska; Antonin Eigel; Jacek J. Pietrzyk; Jürgen Horst


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
207 KB
Volume
4
Category
Article
ISSN
1059-7794

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DNA sequence analysis of the 13 exons and intron/exon boundaries of the phenylalanine hydroxylase (PAH) gene has detected two base transitions, resulting in mis-sense mutations, in the genomic DNA of a Turkish patient (El) with phenylketonuria (PKU). The Leu48--, Ser amino acid substitution was asso