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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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| Опубликовано в: : | Genes (Basel) |
|---|---|
| Главные авторы: | , , , , , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
MDPI
2019
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| Предметы: | |
| Online-ссылка: | 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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