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Lee, D.H., Koo, S.K., Lee, K.S., Yeon, Y.J., Oh, H.J., Kim, S.W., Lee, S.J., Kim, S.S., Lee, J.E., Jo, I. and Jung, S.C. (2004) The molecular basis of phenylketonuria in Koreans. Journal of Human Genetics, 49, 617-621. doi:10.1007/s10038-004-0197-5

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.