Associated Papers
Molecular and Clinical Characterization of a Founder Mutation Causing G6PC3 Deficiency.
Zhen X et al.
Journal of Clinical Immunology, 2024
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X et al.
Research Square, 2024
Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency.
Zhen X et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
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
Germline Predisposition to Hematolymphoid Neoplasia.
Weinberg OK et al.
American Journal of Clinical Pathology, 2019
Phenotypic Heterogeneity of Neutropenia and Gastrointestinal Illness Associated with G6PC3 Founder Mutation.
Glasser CL et al.
Journal of Pediatric Hematology/oncology, 2016
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
Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.
Boztug K et al.
The Journal of Pediatrics, 2012
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