Antithrombin Cambridge II mutation as a risk factor to develop cerebral venous thrombosis

Thrombosis and Haemostasis

Volumn 99, Issue 2, 2008, Pages 443-444

  Barba, Pere ^a   Santamaría Ortiz, Amparo ^a   Tirado, Isabel ^a   Martí, Edelmira ^a   Fontcuberta, Jordi ^a  

^a HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ACENOCOUMAROL; ANTITHROMBIN; ENOXAPARIN; LOW MOLECULAR WEIGHT HEPARIN; MESALAZINE;

A384S GENE; ADULT; ANTITHROMBIN DEFICIENCY; ARTICLE; CASE REPORT; CEREBRAL VENOUS THROMBOSIS; DYSARTHRIA; GENE; GENE MUTATION; HEADACHE; HUMAN; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; PRIORITY JOURNAL; RISK FACTOR; THROMBOPHILIA; ULCERATIVE COLITIS; VEIN THROMBOSIS; WALKING DIFFICULTY;

ADULT; ANTITHROMBIN III; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFLAMMATORY BOWEL DISEASES; INTRACRANIAL THROMBOSIS; MALE; MUTATION; PEDIGREE; RISK FACTORS; THROMBOPHILIA; VENOUS THROMBOSIS;

EID: 38949106624     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH07-11-0670     Document Type: Article

References (7)

1. Perry DJ, Daly M, Harper PL, et al. Antithrombin Cambridge II, 384 Ala to Ser. Further evidence of the role of the reactive centre loop in the inhibitory function of the serpins. FEBS Lett 1991; 285: 248-250.
2. Corral J, Hernandez-Espinosa D, Soria JM, et al. Antithrombin Cambridge II (A384S): an underestimated genetic risk factor for venous thrombosis. Blood 2007; 109: 4258-4263.
3. Dentali F, Crowther M, Ageno W. Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis. Blood 2006; 107: 2766-2773.
4. Libourel EJ, Kate MK, Brouwer JL, et al. Contribution of multiple thrombophilic and transient risk factors in the development of cerebral venous thrombosis. Thromb Res 2007; Epub ahead of print.
5. Souto JC, Almasy L, Borrell M, et al. Genetic susceptibility to thrombosis and its relationship to phisiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet 2000; 67: 1452-1459.
6. Santamaría A, Soria JM, Tirado I, Mateo J, Coll I, Souto JC, Fontcuberta J. Double heterozygosity for Factor V Leiden and Factor V Cambridge mutations associated with low levels of activated protein C resistance in a Spanish thrombophilic family. Thromb Haemost 2005; 93: 1193-1195.
7. Perry DJ, Daly ME, Tait RC, et al. Antithrombin cambridge II (Ala384Ser): clinical, functional and haplotype analysis of 18 families. Thromb Haemost 1998; 79: 249-253.