In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the
Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria
β Scribed by A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M. Gomes; M.A. Zago
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 223 KB
- Volume
- 17
- Category
- Article
- ISSN
- 1059-7794
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