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The spectrum of mutations and methods for their detection in the phenylalanine hydroxylase gene in phenylketonuria patients from the novosibirsk region

✍ Scribed by F. O. Smagulova; I. V. Morozov


Book ID
110669753
Publisher
SP MAIK Nauka/Interperiodica
Year
2000
Tongue
English
Weight
785 KB
Volume
26
Category
Article
ISSN
1068-1620

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Ten novel mutations in the phenylalanine
✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M.A. Zago πŸ“‚ Article πŸ“… 2000 πŸ› John Wiley and Sons 🌐 English βš– 15 KB πŸ‘ 2 views

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