학술논문
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid features
Document Type
Article
Author
Kornak, U.; Saha, N.; Kopp, J.; Rodríguez de los Santos, M.; El Choubassi, N.; Ehmke, N.; Jäger, M.; Spielmann, M.; Pantel, J.T.; Hecht, J.; Mundlos, S.; Fischer-Zirnsak, B.; Keren, B.; Lejeune, E.; Brice, A.; Neumann, A.; Heyd, F.; Taylor Tavares, A.L.; Piard, J.; Van Maldergem, L.; Rodrigues Alves, J.G.; Dupont, J.; Fauler, B.; Mielke, T.; Meierhofer, D.; Strom, T.M.; Laugel, V.; Depienne, C.; Bertoli-Avella, A.; Bauer, P.; Boute, O.
Source
In: Genetics in Medicine . (Genetics in Medicine, September 2022, 24(9):1927-1940)
Subject
Language
English
ISSN
15300366
10983600
10983600