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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,...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2018
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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 |