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Identification of a new missense mutation in Japanese phenylketonuric patients

✍ Scribed by B. Goebel-Schreiner; R. Schreiner


Publisher
Springer
Year
1993
Tongue
English
Weight
512 KB
Volume
16
Category
Article
ISSN
0141-8955

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A single base transition of G to A at codon 408 of the phenylalanine hydroxylase gene is identified. This missense mutation results in the substitution of Arg408 for Gln408 (R408Q) and accounts for about 5% of phenylketonuria (PKU) chromosomes among Chinese. This mutation is in linkage disequilibriu