Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies and the incidence of the disease itself varies from country to country. In the Caucasus region of Russia,...

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Gepubliceerd in:PLoS One
Hoofdauteurs: Gundorova, Polina, Zinchenko, Rena A., Kuznetsova, Irina A., Bliznetz, Elena A., Stepanova, Anna A., Polyakov, Aleksander V.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2018
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6070269/
https://ncbi.nlm.nih.gov/pubmed/30067850
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0201489
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