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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Spanish |
| Published: |
Instituto Nacional de Pediatría
2014-07-01
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| Series: | Acta Pediátrica de México |
| Subjects: | |
| Online Access: | http://ojs.actapediatrica.org.mx/index.php/APM/article/view/595 |