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Drummond, A.J., Ashton, B., Buxton, S., Cheung, M., Cooper, A., Heled, J., Kearse, M., Moir, R., Stones-Ha- vas, S., Sturrock, S., Thierer, T. and Wilson A. (2010) Inspirational Software for Biologiests, Geneious. http://www.geneious.com

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• 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.