Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.

@article{Daniele2007MolecularEO,
  title={Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.},
  author={Aurora Daniele and Giuseppe Cardillo and Cinzia Pennino and Maria Teresa Carbone and Domenico Scognamiglio and Antonio Correra and Alberto Pignero and Giuseppe Castaldo and Francesco Salvatore},
  journal={Annals of human genetics},
  year={2007},
  volume={71 Pt 2},
  pages={185-93}
}
Hyperphenylalaninemia (HPA) comprises a group of autosomal recessive disorders mainly caused by phenylalanine hydroxylase (PAH) gene mutations. We investigated PAH mutations in 126 HPA patients from Southern Italy who were identified in a neonatal screening program. The promoter, coding and exon-flanking intronic sequences of the PAH gene were amplified and sequenced. Mutations were identified in 240/249 alleles (detection rate: 96.4%). We found 60 gene variants; the most frequent were p.R261Q… CONTINUE READING
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