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- Title
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, Göran; Ellström, Karl-Gustav; Nordenskjöld, Magnus; Lagerstedt-Robinson, Kristina; Fadeel, Bengt
- Abstract
The article focuses on the case of a 10-year-old boy with severe congenital neutropenia (SCN) and double de novo mutations of ELANE. It discloses the two missense of mutations observed in the patients through molecular diagnosis of genomic DNA. The extraction of genomic DNA from peripheral blood and buccal cells of the patients reveal the presence of ELANE mutations. Moreover, it asserts on conducting other studies to understand the genotype-phenotype correlations in missense mutations.
- Subjects
NONSENSE suppression (Genetics); NEUTROPENIA; GENOMES; MOLECULAR diagnosis; GENOTYPE-environment interaction; PEDIATRIC diagnosis; PATIENTS
- Publication
British Journal of Haematology, 2009, Vol 147, Issue 4, p587
- ISSN
0007-1048
- Publication type
Letter
- DOI
10.1111/j.1365-2141.2009.07866.x