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Autor:
Kaan Boztug, Thomas Moulton, Simona Gatti, Blanche P. Alter, Julie Curtin, Nima Parvaneh, P. J. Darbyshire, Nima Rezaei, Jeffrey W. Innis, Jean Donadieu, Zekai Avci, Karl Welte, Rachel Fruge, Christoph Klein, George R. Buchanan, John Corns, Larry Boxer, Philip S. Rosenberg, Hung Chi Tran, Marie Böhm, Isabelle Pellier
Publikováno v:
Blood. 116:1495-1495
Abstract 1495 Severe congenital neutropenia (SCN) is a heterogenous group of disorders characterized by an increased susceptibility to bacterial infections. Recently, our discovery of G6PC3 deficiency in 12 patients with SCN and various developmental