Identification of a new missense mutation in Japanese phenylketonuric patients
β 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