The Spectrum ofELANEMutations and their Implications in Severe Congenital and Cyclic Neutropenia
Author:
Affiliation:
1. Department of Pediatric Hematology and Oncology; Hannover Medical School; Hannover; Germany
2. Research Facility Cell Sorting; Hannover Medical School; Hannover; Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22308/fullpdf
Reference51 articles.
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2. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register;Bellanne-Chantelot;Blood,2004
3. Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase;Benson;Nat Genet,2003
4. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis;Bonilla;N Engl J Med,1989
5. Granules of the human neutrophilic polymorphonuclear leukocyte;Borregaard;Blood,1997
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