Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.

@article{Hamilton2017CharacterizationOP,
  title={Characterization of Phenyalanine Hydroxylase Gene Mutations in Chilean PKU Patients.},
  author={Valerie Hamilton and Lorena Santa Mar{\'i}a and Karen M Fuenzalida and Pamela R Morales and Lourdes R Desviat and Magdalena Ugarte and Bel{\'e}n P{\'e}rez and Juan Francisco A Cabello and Ver{\'o}nica E Cornejo},
  journal={JIMD reports},
  year={2017}
}
Phenylketonuria (PKU, OMIM 261600) is an autosomal recessive disease, caused by mutations in the Phenylalanine Hydroxylase (PAH) gene situated in chromosome 12q22-q24.2. This gene has 13 exons. To date, 991 mutations have been described. The genotype is one of the main factors that determine the phenotype of this disease. OBJECTIVE Characterize PKU genotype and phenotype seen in Chilean PKU patients. METHODS We studied the PAH gene by restriction fragment length polymorphism (RFLP) and/or… CONTINUE READING
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