Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
扩展 PRAAS 谱系：6 例 SCID-Omenn 综合征患儿中免疫蛋白酶体亚基 β 型 10 的新生突变
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.02.013
van der Made, Caspar I; Kersten, Simone; Chorin, Odelia; Engelhardt, Karin R; Ramakrishnan, Gayatri; Griffin, Helen; Schim van der Loeff, Ina; Venselaar, Hanka; Rothschild, Annick Raas; Segev, Meirav; Schuurs-Hoeijmakers, Janneke H M; Mantere, Tuomo; Essers, Rick; Esteki, Masoud Zamani; Avital, Amir L; Loo, Peh Sun; Simons, Annet; Pfundt, Rolph; Warris, Adilia; Seyger, Marieke M; van de Veerdonk, Frank L; Netea, Mihai G; Slatter, Mary A; Flood, Terry; Gennery, Andrew R; Simon, Amos J; Lev, Atar; Frizinsky, Shirley; Barel, Ortal; van der Burg, Mirjam; Somech, Raz; Hambleton, Sophie; Henriet, Stefanie S V; Hoischen, Alexander
