Research Centre for Medical Genetics
115522, Moscow,
Moskvorechye st., 1
Reception
+7 (495) 111-03-03
Mo-Fr: 9:00 - 17:00
Рус

PLoS ONE Journal published an article by FSBI RCMG researchers

PLoS ONE Journal (Q1 Web of Science) published an article by the team of the DNA Diagnostics Laboratory (headed by Polyakov A.V., Doctor of biological science) at the FSBI RCMG.

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

Polina Gundorova, Anna A. Stepanova, Irina A. Kuznetsova, Sergey I. Kutsev, Aleksander V. Polyakov

PLoS ONE 14(1): e0211048. 

A large-scale study of the genotypes of patients with phenylketonuria and hyperphenylalaninemia was conducted. Molecular genetic data revealed a group of patients sensitive to tetrahydrobiopterin therapy.

The presented data include allele frequencies of the most common mutations of the PAH gene, gene-phenotypic correlations, and regional differences.

https://doi.org/10.1371/journal.pone.021104