Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia

✍ Scribed by 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

• Book ID: 113746951
• Publisher: Elsevier Science
• Year: 2012
• Tongue: English
• Weight: 318 KB
• Volume: 160
• Category: Article
• ISSN: 1097-6833
• DOI: 10.1016/j.jpeds.2011.09.019