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Medicine, ISSN 0025-7974, 09/2019, Volume 98, Issue 39, p. e17372
Byline: Keiko Aota, Department of Oral Medicine; Koichi Kani, Department of Oral Medicine; Tomoko Yamanoi, Department of Oral Medicine; Yukihiro Momota,... 
Journal Article
Haematologica, ISSN 0390-6078, 07/2010, Volume 95, Issue 7, pp. 1207 - 1210
Severe congenital neutropenia a clinically and genetically heterogeneous disorder. Mutations in different genes have been described as causative for severe... 
Congenital neutropenia | HAX1 | Myelopoiesis | ELANE | GENE | ELASTASE | myelopoiesis | DISEASE | PHENOTYPE | ELA2 | congenital neutropenia | HEMATOLOGY | DEFICIENCY | Glucose-6-Phosphatase - genetics | Humans | Adaptor Proteins, Signal Transducing - genetics | Genotype | Mutation | Neutropenia - genetics | Child | Neutropenia - congenital | Brief Reports
Journal Article
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 10/2019, Volume 66, Issue 10, pp. e27923 - n/a
Journal Article
Medicine (United States), ISSN 0025-7974, 03/2018, Volume 97, Issue 10, p. e0031
Journal Article
Journal Article
Immunobiology, ISSN 0171-2985, 2012, Volume 218, Issue 5, pp. 828 - 833
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 08/2011, Volume 57, Issue 2, pp. 332 - 335
Journal Article
Pediatric Blood & Cancer, ISSN 1545-5009, 12/2015, Volume 62, Issue 12, pp. 2229 - 2231
Severe congenital neutropenia (SCN) is a bone marrow failure disease with an autosomal dominant inheritance from mutations in ELANE. Here, we report a... 
severe congenital neutropenia | somatic mosaicism | ELANE | Severe congenital neutropenia | Somatic mosaicism | GENE | ONCOLOGY | ELASTASE | PEDIATRICS | HEMATOLOGY | Frameshift Mutation | Humans | Leukocyte Elastase - genetics | Infant | Male | Mosaicism | Neutropenia - genetics | Neutropenia - enzymology | Genetic aspects | Genetic disorders | Neutropenia
Journal Article