2017 / 04

Next Paper
DOI: 10.24075/brsmu.2017-04-07

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
|
No data available...