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Cooper, D.N., Chen, J., Ball, E.V., Howells, K., Mort, M., Philips, A.D., Chuzhanova, N., Krawczak, M., Kehrer- Sawatzki, H. and Stenson, P.D. (2010) Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics. Human Mutation, 31, 631-655. doi:10.1002/humu.21260

has been cited by the following article:

• 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.