A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
编码磷脂酶 Cγ2 的 PLCG2 的超态错义突变导致一种具有免疫缺陷的显性遗传自身炎症性疾病
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2012.08.006
Qing Zhou, Geun-Shik Lee, Jillian Brady, Shrimati Datta, Matilda Katan, Afzal Sheikh, Marta S Martins, Tom D Bunney, Brian H Santich, Susan Moir, Douglas B Kuhns, Debra A Long Priel, Amanda Ombrello, Deborah Stone, Michael J Ombrello, Javed Khan, Joshua D Milner, Daniel L Kastner, Ivona Aksentijevic