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

Autor: Zlotina, Anna1 (AUTHOR) anna-zlotina@yandex.ru, Barashkova, Svetlana1,2 (AUTHOR), Zhuk, Sergey1 (AUTHOR), Skitchenko, Rostislav1 (AUTHOR), Usoltsev, Dmitrii3,4 (AUTHOR), Sokolnikova, Polina1 (AUTHOR), Artomov, Mykyta3,4 (AUTHOR), Alekseenko, Svetlana2 (AUTHOR), Simanova, Tatiana5 (AUTHOR), Goloborodko, Maria2 (AUTHOR), Berleva, Olga2 (AUTHOR), Kostareva, Anna1,6 (AUTHOR)
Zdroj: Orphanet Journal of Rare Diseases. 8/23/2024, Vol. 19 Issue 1, p1-23. 23p.
Databáze: Academic Search Ultimate
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