Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

(2009) J. I. Arostegui et al.   BLOOD

Prevalence of mutations inELANE,GFI1,HAX1,SBDS,WASandG6PC3in patients with severe congenital neutropenia

(2009) Jun Xia et al.   BRITISH JOURNAL OF HAEMATOLOGY

Molecular basis of congenital neutropenia

(2009) C. Klein   HAEMATOLOGICA

Glucose-6-phosphatase Catalytic Subunit Gene Family

(2009) John C. Hutton et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement

(2008) Ali Dursun et al.   CLINICAL DYSMORPHOLOGY

Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

(2008) Robert H J Bandsma et al.   PEDIATRIC RESEARCH