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Structural and Functional Impact of Seven Missense Variants of Phenylalanine Hydroxylase
The molecular genetics of well-characterized inherited diseases, such as phenylketonuria (PKU) and hyperphenylalaninemia (HPA) predominantly caused by mutations in the phenylalanine hydroxylase (PAH) gene, is often complicated by the identification of many novel variants, often with no obvious impac...
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| 出版年: | Genes (Basel) |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
MDPI
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6628251/ https://ncbi.nlm.nih.gov/pubmed/31208052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes10060459 |
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