Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia
Year: 2011
Type: article
Study design: Observational Study
Source: The Journal of Pediatrics
Authors: Kaan Boztug, Philip S. Rosenberg, Marie Dorda, Siddharth Banka, Thomas Moulton, Julie Curtin, Nima Rezaei, John Corns, Jeffrey W. Innis, Zekai Avci, Hung Chi Tran, Isabelle Pellier, Paolo Pierani, Rachel Fruge, Nima Parvaneh, Setareh Mamishi, Rajen Mody, Phil Darbyshire, Jayashree Motwani, Jennie Murray, George R. Buchanan, William G. Newman, Blanche P. Alter, Laurence A. Boxer, Jean Donadieu, Karl Welte, Christoph Klein
Institutions: Austrian Academy of Sciences, Medizinische Hochschule Hannover, CeMM Research Center for Molecular Medicine, Medical University of Vienna, National Cancer Institute, Manchester Academic Health Science Centre, St Mary's Hospital, Bronx-Lebanon Hospital Center, Children's Hospital at Westmead, Children's Medical Center, Tehran University of Medical Sciences, Nationwide Children's Hospital, University of Michigan, S.B. Keçiören Eğitim ve Araştırma Hastanesi, Children's Hospital Los Angeles, Centre Hospitalier Universitaire d'Angers, Marche Polytechnic University, Children's Medical Center, Michigan Medicine, Birmingham Children's Hospital, Western General Hospital, The University of Texas Southwestern Medical Center, Division of Cancer Epidemiology and Genetics, Hôpital Armand-Trousseau, Ludwig-Maximilians-Universität München
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Funder: National Institutes of Health
OpenAlex ID: W1996891480