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

Authors: Lundén, Lina; Boxhammer, Sandra; Carlsson, Göran¹; Ellström, Karl-Gustav²; Nordenskjöld, Magnus³; Lagerstedt-Robinson, Kristina³; Fadeel, Bengt⁴

Source: British Journal of Haematology, Volume 147, Number 4, November 2009 , pp. 587-590(4)

Publisher: Wiley-Blackwell

Keywords: severe congenital neutropenia; ELANE (ELA2); de novo mutation; G-CSF treatment

Document Type: Correspondence

DOI: http://dx.doi.org/10.1111/j.1365-2141.2009.07866.x

Affiliations: 1: Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Stockholm 2: Department of Paediatrics, Karlstad Central Hospital, Karlstad, Sweden., Email: bengt.fadeel@ki.se 3: Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska University Hospital, Karolinska Institutet 4: Division of Molecular Toxicology, Institute of Environmental Medicine, Karolinska Institutet

Publication date: 2009-11-01

• In this: publication
• By this: publisher
• In this Subject: Pathology
• By this author: Lundén, Lina ;  Boxhammer, Sandra ;  Carlsson, Göran ;  Ellström, Karl-Gustav ;  Nordenskjöld, Magnus ;  Lagerstedt-Robinson, Kristina ;  Fadeel, Bengt

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