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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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| 出版年: | Springerplus |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer International Publishing
2015
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| 主題: | |
| オンライン･アクセス: | 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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