Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
about
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 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 RegistryAnimal models of human granulocyte diseases.Genetic analysis and clinical picture of severe congenital neutropenia in Israel.
P2860
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P2860
Phenotypic heterogeneity and evidence of a founder effect associated with G6PC3 mutations in patients with severe congenital neutropenia
description
2012 nî lūn-bûn
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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2012年论文
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name
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@ast
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@en
type
label
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@ast
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@en
prefLabel
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@ast
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@en
P2093
P2860
P1476
Phenotypic heterogeneity and e ...... severe congenital neutropenia
@en
P2093
Abdul Rauf Shakoori
Bradley N Smith
Bu'hussain Hayee
Catherine Evans
David C Linch
Georgina Hall
Phil J Ancliff
Rosemary E Gale
Zuhre Kaya
P2860
P304
P356
10.1111/J.1365-2141.2012.09110.X
P407
P577
2012-04-02T00:00:00Z