Article citationsMore>>
Guldberg, P., Levy, H.L., Hanley, W.B., Koch, R., Mata-lon, R., Rouse, B.M., Trefz, F., De la Cruz, F., Henriksen, K.F. and Guttler, F. (1996) Phenylalanine hydroxylase gene mutations in the United States: Report from the Maternal PKU Collaborative Study. The American Jour-nal of Human Genetics, 59, 684-694.
has been cited by the following article:
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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.
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