Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2005 | 1 |
2009 | 1 |
2012 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (cited) for id: 614878
4 results
Results by year
Filters applied: . Clear all
Page 1
Novel PLCG2 Mutation in a Patient With APLAID and Cutis Laxa.
Front Immunol. 2018 Dec 14;9:2863. doi: 10.3389/fimmu.2018.02863. eCollection 2018.
Front Immunol. 2018.
PMID: 30619256
Free PMC article.
A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency.
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.
Zhou Q, et al.
Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20.
Am J Hum Genet. 2012.
PMID: 23000145
Free PMC article.
Item in Clipboard
Characterization of phospholipase C gamma enzymes with gain-of-function mutations.
Everett KL, Bunney TD, Yoon Y, Rodrigues-Lima F, Harris R, Driscoll PC, Abe K, Fuchs H, de Angelis MH, Yu P, Cho W, Katan M.
Everett KL, et al.
J Biol Chem. 2009 Aug 21;284(34):23083-93. doi: 10.1074/jbc.M109.019265. Epub 2009 Jun 16.
J Biol Chem. 2009.
PMID: 19531496
Free PMC article.
Item in Clipboard
Autoimmunity and inflammation due to a gain-of-function mutation in phospholipase C gamma 2 that specifically increases external Ca2+ entry.
Yu P, Constien R, Dear N, Katan M, Hanke P, Bunney TD, Kunder S, Quintanilla-Martinez L, Huffstadt U, Schröder A, Jones NP, Peters T, Fuchs H, de Angelis MH, Nehls M, Grosse J, Wabnitz P, Meyer TP, Yasuda K, Schiemann M, Schneider-Fresenius C, Jagla W, Russ A, Popp A, Josephs M, Marquardt A, Laufs J, Schmittwolf C, Wagner H, Pfeffer K, Mudde GC.
Yu P, et al.
Immunity. 2005 Apr;22(4):451-65. doi: 10.1016/j.immuni.2005.01.018.
Immunity. 2005.
PMID: 15845450
Free article.
Item in Clipboard
Cite
Cite