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Journal Article
The New England journal of medicine, ISSN 1533-4406, 2009, Volume 360, Issue 1, pp. 32 - 43
Journal Article
Nature genetics, ISSN 1546-1718, 2014, Volume 46, Issue 9, pp. 1021 - 1027
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2010, Volume 152A, Issue 12, pp. 3157 - 3163
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2010, Volume 152A, Issue 12, pp. 3157 - 3163
Biallelic mutations in the gene encoding HCLS-associated protein X-1 (HAX1) cause autosomal recessive severe congenital neutropenia. Some of these patients... 
Journal Article
Blood, ISSN 0006-4971, 11/2011, Volume 118, Issue 21, pp. 692 - 692
Abstract Abstract 692 Congenital neutropenia syndromes comprise a heterogeneous group of disorders, whose genetic etiology remains often unknown. We describe a... 
Journal Article
Blood, ISSN 0006-4971, 11/2009, Volume 114, Issue 22, pp. 550 - 550
Abstract Abstract 550 Severe congenital neutropenia is a heterogeneous disorder with the phenotypic hallmark of ‘myeloid maturation arrest‘. Recent work in our... 
Journal Article
Blood, ISSN 0006-4971, 11/2011, Volume 118, Issue 21, pp. 2170 - 2170
Abstract Abstract 2170 Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency causes congenital neutropenia in conjunction with various cardiac or... 
Journal Article
Blood, ISSN 0006-4971, 11/2008, Volume 112, Issue 11, pp. 5 - 5
Abstract We here describe a previously unrecognized nosological entity in 12 patients from 8 unrelated pedigrees. All patients presented with severe congenital... 
Journal Article
2007, Volume 39, Issue 1
Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells,... 
Medical and Health Sciences | Medicin och hälsovetenskap | MEDICIN | MEDICINE
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