TITLE:
PAH mutational spectrum: still expanding
AUTHORS:
Laura Vilarinho, Sofia Esteves, Elisabete Ramos, António Amorim, Luisa Azevedo
KEYWORDS:
Phenylketonuria (PKU); Phenylalanine Hydroxylase; PAH Gene; Novel Mutation
JOURNAL NAME:
Open Journal of Genetics,
Vol.1 No.2,
September
23,
2011
ABSTRACT: Phenylketonuria (PKU, MIM 261600) is the most common inborn error of amino acid metabolism. To date, a total of more than 500 mutations have been associated with the disease. In this report, the novel p.Glu182Lys mutation, found in a Portuguese family in combination with the previously reported p.Leu 348Val, is presented and its putative deleterious impact discussed.