Publications
2011
G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Hayee B,
Antonopoulos A,
Murphy EJ,
Rahman FZ,
Sewell G,
Smith BN,
McCartney S,
Furman M,
Hall G,
Bloom SL,
Haslam SM,
Morris HR,
Boztug K,
Klein C,
Winchester B,
Pick E,
Linch DC,
Gale RE,
Smith AM,
Dell A,
Segal AW.
Glycobiology. 2011 Jul;21(7):914-24.
2011
Extended Spectrum of Human Glucose-6-Phosphatase Catalytic Subunit 3 Deficiency: Novel Genotypes and Phenotypic Variability in Severe Congenital Neutropenia.
Boztug K,
Rosenberg PS,
Dorda M,
Banka S,
Moulton T,
Curtin J,
Rezaei N,
Corns J,
Innis JW,
Avci Z,
Tran HC,
Pellier I,
Pierani P,
Fruge R,
Parvaneh N,
Mamishi S,
Mody R,
Darbyshire P,
Motwani J,
Murray J,
Buchanan GR,
Newman WG,
Alter BP,
Boxer LA,
Donadieu J,
Welte K,
Klein C.
J Pediatr. 2011 Nov 1.
