Hereditary Antithrombin Deficiency
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Last Posted: Mar 01, 2023
- [Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene].
Yang Xiao, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 0 (11) 1250-1252 - SERPINC1 variants causing hereditary antithrombin deficiency in a Danish population.
Kjaergaard Alisa D, et al. Thrombosis research 2019 1 68-75 - Management of hereditary antithrombin deficiency in pregnancy.
James Andra H et al. Thrombosis research 2017 May 15741-45 - Genetic analysis should be included in clinical practice when screening for antithrombin deficiency.
Zeng Wei, et al. Thrombosis and haemostasis 2015 2 (2) 262-71 - Impact of the type of SERPINC1 mutation and subtype of antithrombin deficiency on the thrombotic phenotype in hereditary antithrombin deficiency.
Luxembourg Beate, et al. Thrombosis and haemostasis 2014 2 (2) 249-57 - Hereditary antithrombin deficiency
From NCATS Genetic and Rare Diseases Information Center - Hereditary antithrombin deficiency type 2
From NCATS Genetic and Rare Diseases Information Center - Hereditary antithrombin deficiency type I
From NCATS Genetic and Rare Diseases Information Center
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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 08, 2024
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