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Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.
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A syndrome with congenital neutropenia and mutations in G6PC3.
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The many causes of severe congenital neutropenia.
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In vivo expansion of cells expressing acquired CSF3R mutations in patients with severe congenital neutropenia.
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A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
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Functional interaction between mutations in the granulocyte colony-stimulating factor receptor in severe congenital neutropenia.
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Neutrophil elastase mutations and risk of leukaemia in severe congenital neutropenia.
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HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).
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Neutrophil elastase in cyclic and severe congenital neutropenia.
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