Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy.

• Authors: Lina Lundén, Sandra Boxhammer, Göran Carlsson, Karl-Gustav Ellström, Magnus Nordenskjöld, Kristina Lagerstedt-Robinson, Bengt Fadeel
• Journal: British journal of haematology (Br J Haematol) Vol. 147 Issue 4 Pg. 587-90 (Nov 2009) ISSN: 1365-2141 [Electronic] England
• PMID: 19694719 (Publication Type: Case Reports, Letter, Research Support, Non-U.S. Gov't)

Chemical References

• Granulocyte Colony-Stimulating Factor
• Leukocyte Elastase

Topics

• Base Sequence
• Child
• DNA Mutational Analysis (methods)
• Granulocyte Colony-Stimulating Factor (therapeutic use)
• Humans
• Leukocyte Elastase (genetics)
• Male
• Mutation, Missense
• Neutropenia (genetics)