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Mutations in SRP54Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome
- Source :
- Blood; December 2017, Vol. 130 Issue: 1, Number 1 Supplement 1 pLBA-3-LBA-3
- Publication Year :
- 2017
-
Abstract
- Context.Congenital neutropenia (CN) is a heterogeneous group of diseases characterized by low neutrophil count, severe bacterial infections, increased risk of leukemic transformation and various extra-hematopoietic organ dysfunctions. Even if 24 different genes have been linked to the etiology of CN, in many patients the genetic causes of CN remain unknown.
Details
- Language :
- English
- ISSN :
- 00064971 and 15280020
- Volume :
- 130
- Issue :
- 1, Number 1 Supplement 1
- Database :
- Supplemental Index
- Journal :
- Blood
- Publication Type :
- Periodical
- Accession number :
- ejs56864583
- Full Text :
- https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3