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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Boztug K, Schwinzer B, Rezaei N, Bohn G, Melin M, Carlsson G, Fadeel B, Dahl N, Palmblad J, Henter JI, Zeidler C, Grimbacher B, Welte K. Klein C, et al. Among authors: rathinam c. Nat Genet. 2007 Jan;39(1):86-92. doi: 10.1038/ng1940. Epub 2006 Dec 24. Nat Genet. 2007. PMID: 17187068
MAPKAP kinase MK2 maintains self-renewal capacity of haematopoietic stem cells.
Schwermann J, Rathinam C, Schubert M, Schumacher S, Noyan F, Koseki H, Kotlyarov A, Klein C, Gaestel M. Schwermann J, et al. Among authors: rathinam c. EMBO J. 2009 May 20;28(10):1392-406. doi: 10.1038/emboj.2009.100. Epub 2009 Apr 16. EMBO J. 2009. PMID: 19369945 Free PMC article.
54 results