Trastornos neurológicos a consecuencia de la mutación del gen que codifica para fenilalanina hidroxilas
Introduction: Phenylketonuria (PKU) is an error of the metabolism of the amino acids due to the gene mutation that codifies for the enzyme called phenylalanine hydroxylase (PAH). 564 cases of mutations in different exons have been reported. It has an autosomal recessive inheritance pattern and ge...
Main Authors: | , , |
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Format: | Article |
Language: | Spanish |
Published: |
Universidad de Cartagena
2013-12-01
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Series: | Revista Ciencias Biomédicas |
Subjects: | |
Online Access: | http://revistacienciasbiomedicas.com/index.php/revciencbiomed/article/view/297/240 |