General aspects and current view of the molecular study of Phenylketonuria (PKU) in Mexico

Phenylketonuria (PKU) is an autosomic recessive inborn errors of metabolism. It is caused y the deficiency of phenylalanine hydroxylase, an enzyme encoded by the PAH gene in 12q22. This gene has a wide mutation spectrum and several different genotypes have been identified. There are many experimenta...

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Main Authors: Miguel Ángel Alcántara-Ortigoza (Author), Benilde García-de Teresa (Author), Rehotbevely Barrientos- Ríos (Author)
Format: Book
Published: Instituto Nacional de Pediatría, 2014-07-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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