2017 / 04

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DOI: 10.24075/brsmu.2017-04-07
Copyright: © 2017 by the authors. Licensee: Pirogov University.
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (CC BY).

ORIGINAL RESEARCH

Determining the frequency of PAH mutations in Moscow region residents with phenylketonuria using a combination of real-time PCR and next-generation sequencing

Nikiforova AI1, Abramov DD1, Kadochnikova VV1, Zobkova GU1, Ogurtsova KA2, Brjuhanova NO2, Shestopalova EA2, Kochetkova TO3, Shubina ES, Donnikov AE1, Trofimov DYu1
About authors

1 DNA-Technology LLC, Moscow, Russia

2 Morozov Children's Municipal Clinical Hospital, Moscow, Russia

3 Laboratory of Molecular Genetic Methods,
Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Moscow

Correspondence should be addressed: Alena I. Nikiforova
Kashirskoe shosse, d. 24, Moscow, Russia, 115478; ur.ygolonhcet-and@avorofikin

About paper

Contribution of the authors to this work: Nikiforova AI — research planning, next-generation sequencing, data analysis and interpretation, drafting and editing of a manuscript; Abramov DD — research planning, development of the diagnostic panel, data analysis and interpretation, editing of a manuscript; Kadochnikova VV — polymerase chain reaction, data analysis; Zobkova GYu — analysis of literature, data interpretation, editing of a manuscript; Ogurtsova KA, Brjuhanova NO — data collection and analysis; Shestopalova EA — research planning, data collection and analysis, editing of a manuscript; Kochetkova TO — next-generation sequencing, data analysis; Shubina ES — bioinformatic analysis, editing of a manuscript; Donnikov AE — research planning, data interpretation, editing of a manuscript; Trofimov DYu — research planning, conception and design of next-generation sequencing.

Received: 2017-08-07 Accepted: 2017-08-16 Published online: 2017-10-30
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