首页> Orphanet journal of rare diseases> Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis.

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第一作者： Anna,Zlotina

第一单位： Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341. anna-zlotina@yandex.ru.

作者： Anna,Zlotina ^[1] ; Svetlana,Barashkova ^[2] ; Sergey,Zhuk ^[3] ; Rostislav,Skitchenko ^[3] ; Dmitrii,Usoltsev ^[4] ; Polina,Sokolnikova ^[3] ; Mykyta,Artomov ^[4] ; Svetlana,Alekseenko ^[5] ; Tatiana,Simanova ^[6] ; Maria,Goloborodko ^[5] ; Olga,Berleva ^[5] ; Anna,Kostareva ^[7]

作者单位： Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341. anna-zlotina@yandex.ru. ^[1] Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341.;K.A. Raukhfus Children's City Multidisciplinary Clinical Center for High Medical Technologies, Saint-Petersburg, Russia, 191036. ^[2] Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341. ^[3] Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, 43205, USA.;Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, 43215, USA. ^[4] K.A. Raukhfus Children's City Multidisciplinary Clinical Center for High Medical Technologies, Saint-Petersburg, Russia, 191036. ^[5] Republican Children's Clinical Hospital of the Ministry of Health of the Udmurt Republic, Izhevsk, Russia, 426009. ^[6] Almazov National Medical Research Centre, Saint-Petersburg, Russia, 197341.;Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institutet, 17176, Stockholm, Sweden. ^[7]

关键词 DNAH5 HYDIN ZMYND10 Founder mutation Gene-panel sequencing Primary ciliary dyskinesia Russian population Splice site variants Transcript analysis