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Journal Article
Human Mutation, ISSN 1059-7794, 01/2014, Volume 35, Issue 1, pp. 15 - 26
Journal Article
Journal Article
Blood, ISSN 0006-4971, 08/2013, Volume 122, Issue 7, pp. 1122 - 1128
Journal Article
Journal Article
Journal Article
Best Practice & Research: Clinical Haematology, ISSN 1521-6926, 2014, Volume 27, Issue 2, pp. 95 - 106
Hereditary erythrocytosis, thrombocytosis, and neutrophilia are rare inherited syndromes which exhibit Mendelian inheritance. Some patients with primary... 
Hematology, Oncology and Palliative Medicine | thrombocytosis | familial | TPO | neutrophilia | hereditary erythrocytosis | MPL | polycythaemia | JAK2 | Familial | Neutrophilia | Thrombocytosis | Polycythaemia | Hereditary erythrocytosis | FAMILIAL ESSENTIAL THROMBOCYTHEMIA | VON-HIPPEL-LINDAU | MPL BALTIMORE | GERMLINE JAK2 MUTATION | SPLICE DONOR MUTATION | PHD2 MUTATION | HYDROXYLASE DOMAIN PROTEIN-2 | ACTIVATING MUTATION | BISPHOSPHOGLYCERATE MUTASE | CONGENITAL POLYCYTHEMIA | HEMATOLOGY | Polycythemia - diagnosis | Polycythemia - genetics | Gelsolin - metabolism | Humans | Leukocyte Disorders - metabolism | Oxygen - metabolism | Receptors, Erythropoietin - genetics | Receptors, Colony-Stimulating Factor - genetics | Receptors, Colony-Stimulating Factor - metabolism | Janus Kinase 2 - metabolism | Thrombocytosis - metabolism | Polycythemia - pathology | Erythropoietin - metabolism | Thrombocytosis - pathology | Bisphosphoglycerate Mutase - metabolism | Gene Expression | Thrombopoietin - metabolism | Signal Transduction | Janus Kinase 2 - genetics | Hemoglobins - metabolism | Leukocyte Disorders - pathology | Polycythemia - congenital | Receptors, Thrombopoietin - metabolism | Thrombocytosis - diagnosis | Erythropoietin - genetics | Receptors, Thrombopoietin - genetics | Thrombopoietin - genetics | Leukocyte Disorders - diagnosis | Leukocyte Disorders - congenital | Polycythemia - metabolism | Gelsolin - genetics | Leukocyte Disorders - genetics | Mutation | Receptors, Erythropoietin - metabolism | Bisphosphoglycerate Mutase - genetics | Thrombocytosis - genetics | Glycoproteins | Gene mutations | Polycythemia
Journal Article
American Journal of Hematology, ISSN 0361-8609, 08/2018, Volume 93, Issue 8, pp. 1029 - 1041
Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3‐bisphosphoglycerate deficiency and abnormalities in EPOR and... 
BISPHOSPHOGLYCERATE MUTASE DEFICIENCY | VHL GENE | GERMLINE MUTATION | CONGENITAL ERYTHROCYTOSIS | COMPOUND HETEROZYGOSITY | HIPPEL-LINDAU-DISEASE | HB-JOHNSTOWN | FAMILIAL ERYTHROCYTOSIS | HEMATOLOGY | OXYGEN-AFFINITY VARIANT | HEMOGLOBIN-VARIANTS | Polycythemia | Genetic aspects
Journal Article