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<i>PAH</i> mutational spectrum: still expanding

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Author(s): Laura Vilarinho | Sofia Esteves | Elisabete Ramos | António Amorim | Luisa Azevedo

Journal: Open Journal of Genetics
ISSN 2162-4453

Volume: 01;
Issue: 02;
Start page: 9;
Date: 2011;
Original page

Keywords: Phenylketonuria (PKU) | Phenylalanine Hydroxylase | &lt | i&gt | PAH&lt | /i&gt | Gene | Novel Mutation

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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Tangokurs Rapperswil-Jona

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