Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.
作者信息
Lanciotti Marina, Indaco Stefania, Bonanomi Sonia, Coliva Tiziana, Mastrodicasa Elena, Caridi Gianluca, Calvillo Michaela, Dufour Carlo
出版信息
Haematologica. 2010 Jan;95(1):168-9. doi: 10.3324/haematol.2009.015370.
Abstract
摘要
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本文引用的文献
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Molecular basis of congenital neutropenia.
Haematologica. 2009 Oct;94(10):1333-6. doi: 10.3324/haematol.2009.012260.
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Severe congenital neutropenia: a negative synergistic effect of multiple mutations of ELANE (ELA2) gene.
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Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.
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Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.
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Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
J Med Genet. 2008 Dec;45(12):802-7. doi: 10.1136/jmg.2008.058297. Epub 2008 Jul 8.
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Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.
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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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