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Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) gene

✍ Scribed by Dani Bercovich; Arava Elimelech; Joel Zlotogora; Sigal Korem; Tal Yardeni; Nurit Gal; Nurit Goldstein; Bela Vilensky; Roni Segev; Smadar Avraham; Ron Loewenthal; Gerard Schwartz; Yair Anikster

Publisher
Nature Publishing Group
Year
2008
Tongue
English
Weight
236 KB
Volume
53
Category
Article
ISSN
1435-232X

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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