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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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Detalles Bibliográficos
Autores principales: Gundorova, Polina, Zinchenko, Rena A., Kuznetsova, Irina A., Bliznetz, Elena A., Stepanova, Anna A., Polyakov, Aleksander V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070269/
https://www.ncbi.nlm.nih.gov/pubmed/30067850
http://dx.doi.org/10.1371/journal.pone.0201489