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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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Pecimonova, Martina, Kluckova, Daniela, Csicsay, Frantisek, Reblova, Kamila, Krahulec, Jan, Procházkova, Dagmar, Skultety, Ludovit, Kadasi, Ludevit, Soltysova, Andrea
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2019
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Acesso em linha: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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