Associated Papers
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Velez-Tirado N et al.
Scandinavian Journal of Immunology, 2022
Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.
López-Rodríguez L et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2022
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Lin SR et al.
Molecular Genetics and Metabolism, 2015
Dursun syndrome due to G6PC3 gene defect has a fluctuating pattern in all blood cell lines.
Ozgül RK et al.
Journal of Clinical Immunology, 2014
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.
Banka S et al.
Orphanet Journal of Rare Diseases, 2013
G6PC3 mutations cause non-syndromic severe congenital neutropenia.
Banka S et al.
Molecular Genetics and Metabolism, 2013
Mutations in the G6PC3 gene cause Dursun syndrome.
Banka S et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details