학술논문
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
Document Type
Article
Author
van der Made, C.I.; Kersten, S.; Schuurs-Hoeijmakers, J.H.M.; Simons, A.; Pfundt, R.; Hoischen, A.; van de Veerdonk, F.L.; Netea, M.G.; Chorin, O.; Rothschild, A.R.; Segev, M.; Frizinsky, S.; Somech, R.; Engelhardt, K.R.; Griffin, H.; Schim van der Loeff, I.; Slatter, M.A.; Gennery, A.R.; Hambleton, S.; Ramakrishnan, G.; Venselaar, H.; Flood, T.; Mantere, T.; Essers, R.; Esteki, M.Z.; Avital, A.L.; Loo, P.S.; Warris, A.; Seyger, M.M.; Simon, A.J.; Lev, A.; Barel, O.; van der Burg, M.; Henriet, S.S.V.
Source
In: American Journal of Human Genetics . (American Journal of Human Genetics, 4 April 2024, 111(4):791-804)
Subject
Language
English
ISSN
15376605
00029297
00029297