G6PC3 mutations cause non-syndromic severe congenital neutropenia.

[1]  A. Shakoori,et al.  Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia , 2012, British journal of haematology.

[2]  P. Rosenberg,et al.  Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. , 2012, The Journal of pediatrics.

[3]  Zahra Alizadeh,et al.  Two cases of syndromic neutropenia with a report of novel mutation in G6PC3. , 2011, Iranian journal of allergy, asthma, and immunology.

[4]  C. Klein,et al.  G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. , 2011, Glycobiology.

[5]  Carla Ciccone,et al.  Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia , 2011, The Journal of investigative dermatology.

[6]  C. Klein,et al.  A Case of Syndromic Neutropenia and Mutation in G6PC3 , 2011, Journal of pediatric hematology/oncology.

[7]  W. Newman,et al.  Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype–phenotype correlation or age‐dependent relationship? , 2011, American journal of hematology.

[8]  Y. Crow,et al.  Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3 , 2011, European Journal of Human Genetics.

[9]  S. Paul,et al.  Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis. , 2010, Blood.

[10]  W. Newman,et al.  Mutations in the G6PC3 gene cause Dursun syndrome , 2010, American journal of medical genetics. Part A.

[11]  M. Ballmaier,et al.  Digenic mutations in severe congenital neutropenia , 2010, Haematologica.

[12]  Bodo Grimbacher,et al.  A syndrome with congenital neutropenia and mutations in G6PC3. , 2009, The New England journal of medicine.

[13]  D. Link,et al.  Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia , 2009, British journal of haematology.

[14]  C. Klein.  Molecular basis of congenital neutropenia , 2009, Haematologica.

[15]  S. Henikoff,et al.  Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm , 2009, Nature Protocols.

[16]  K. Welte,et al.  Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases. , 1998, Blood.