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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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Библиографические подробности
Опубликовано в: :Genes (Basel)
Главные авторы: Pecimonova, Martina, Kluckova, Daniela, Csicsay, Frantisek, Reblova, Kamila, Krahulec, Jan, Procházkova, Dagmar, Skultety, Ludovit, Kadasi, Ludevit, Soltysova, Andrea
Формат: Artigo
Язык:Inglês
Опубликовано: MDPI 2019
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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