Reference number: 68
Description:
Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, Martins MS, Bunney TD, Santich BH, Moir S, Kuhns DB, Long Priel DA, Ombrello A, Stone D, Ombrello MJ, Khan J, Milner JD, Kastner DL, Aksentijevich I. A hypermorphic missense mutation in PLCG2, encoding phospholipase Cy2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006.