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Identification of a Novel Mutation in the PAH Gene in an Iranian Phenylketonuria Family: A Case Report
Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) i...
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| Publicado no: | Iran J Public Health |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Tehran University of Medical Sciences
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5439047/ https://ncbi.nlm.nih.gov/pubmed/28540274 |
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