## Communicated by Ronald J.A. Wanders Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH 4 )-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has
β¦ LIBER β¦
Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan
β Scribed by Okano, Yoshiyuki; Kudo, Satoshi; Nishi, Yasuaki; Sakaguchi, Tomoko; Aso, Kazuyoshi
- Book ID
- 120380980
- Publisher
- Nature Publishing Group
- Year
- 2011
- Tongue
- English
- Weight
- 504 KB
- Volume
- 56
- Category
- Article
- ISSN
- 1435-232X
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Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application