Observations indicating the nature of the mutation in phenylketonuria
β Scribed by K. H. Choo; R. G. H. Cotton; I. G. Jennings; D. M. Danks
- Publisher
- Springer
- Year
- 1979
- Tongue
- English
- Weight
- 976 KB
- Volume
- 2
- Category
- Article
- ISSN
- 0141-8955
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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
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