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Mutations of the phenylalanine hydroxylase gene in Iranian patients with phenylketonuria
Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of sixteen different mutations in Iranian patients with hyperphenylalaninemia. The mutations were detected during the charact...
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| Publicado no: | Springerplus |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4579200/ https://ncbi.nlm.nih.gov/pubmed/26413448 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40064-015-1309-8 |
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