Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
Titel:
Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
Auteur:
Boztug, Kaan Rosenberg, Philip S. Dorda, Marie Banka, Siddharth Moulton, Thomas Curtin, Julie Rezaei, Nima Corns, John Innis, Jeffrey W. Avci, Zekai Tran, Hung Chi Pellier, Isabelle Pierani, Paolo Fruge, Rachel Parvaneh, Nima Mamishi, Setareh Mody, Rajen Darbyshire, Phil Motwani, Jayashree Murray, Jennie Buchanan, George R. Newman, William G. Alter, Blanche P. Boxer, Laurence A. Donadieu, Jean Welte, Karl Klein, Christoph