Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
about
A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutationsAdult siblings with homozygous G6PC3 mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotypeClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryGlycans Instructing Immunity: The Emerging Role of Altered Glycosylation in Clinical Immunology.Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropeniaGlucose-6-phosphatase-β, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionality.Neutropenia in primary immunodeficiencySurvival and differentiation defects contribute to neutropenia in glucose-6-phosphatase-β (G6PC3) deficiency in a model of mouse neutrophil granulocyte differentiation.Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?Genetic analysis and clinical picture of severe congenital neutropenia in Israel.Testicular failure in a patient with G6PC3 deficiency.Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.
P2860
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P2860
Further delineation of the phenotype of severe congenital neutropenia type 4 due to mutations in G6PC3.
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2010 nî lūn-bûn
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2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
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2010年の論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年論文
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2010年论文
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Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@ast
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@en
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@nl
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label
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@ast
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@en
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@nl
prefLabel
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@ast
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@en
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@nl
P2093
P2860
P50
P356
P1476
Further delineation of the phe ...... e 4 due to mutations in G6PC3.
@en
P2093
Dian Donnai
Elena Chervinsky
Joanne Yacobovich
Shay Yeganeh
Stavit Shalev
P2860
P2888
P356
10.1038/EJHG.2010.136
P577
2010-08-18T00:00:00Z