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Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria

✍ Scribed by Paule Bénit; Françoise Rey; Dominique Melle; Arnold Munnich; Jean Rey

Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
245 KB
Volume
4
Category
Article
ISSN
1059-7794

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Ten novel mutations in the phenylalanine
Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria
✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M.A. Zago 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 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