Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?
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Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiencyHuman Metabolic Enzymes Deficiency: A Genetic Mutation Based ApproachA clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.A novel homozygous mutation in G6PC3 presenting as cyclic neutropenia and severe congenital neutropenia in the same family.Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutationsClinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia RegistryPhenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
P2860
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P2860
Variability of bone marrow morphology in G6PC3 mutations: Is there a genotype-phenotype correlation or age-dependent relationship?
description
article
@en
im Februar 2011 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2011
@uk
name
Variability of bone marrow mor ...... or age-dependent relationship?
@en
Variability of bone marrow mor ...... or age-dependent relationship?
@nl
type
label
Variability of bone marrow mor ...... or age-dependent relationship?
@en
Variability of bone marrow mor ...... or age-dependent relationship?
@nl
prefLabel
Variability of bone marrow mor ...... or age-dependent relationship?
@en
Variability of bone marrow mor ...... or age-dependent relationship?
@nl
P2093
P50
P356
P1476
Variability of bone marrow mor ...... or age-dependent relationship?
@en
P2093
Robert Wynn
Siddharth Banka
William G. Newman
P304
P356
10.1002/AJH.21930
P577
2011-02-01T00:00:00Z