Sökning: L773:1065 6251 OR L773:1531 7048
> (1995-1999) >
Resistance to activ...
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Zöller, BengtLund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups
(författare)
Resistance to activated protein C caused by a factor V gene mutation
- Artikel/kapitelEngelska1995
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LIBRIS-ID:oai:lup.lub.lu.se:649c2da4-a895-48ae-8534-2e377d7b580c
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https://lup.lub.lu.se/record/649c2da4-a895-48ae-8534-2e377d7b580cURI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
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Each year, approximately one in 1000 individuals suffers from venous thromboembolism. The pathogenesis of the disease is multifactorial and a thrombotic event is the result of a combination of genetic and circumstantial risk factors. Until recently, genetic defects could only be identified in a minority of thrombosis patients. The discovery of inherited resistance to activated protein C as a risk factor for thrombosis changed the situation for the better. In Western countries, activated protein C resistance is found in 20% to 60% of patients with thrombosis. Activated protein C resistance is caused by a single point mutation in the Factor V gene, leading to replacement of Arg(R)506 in the activated protein C cleavage site of Factor V with a Gln(Q). As a result, the activated protein C-mediated cleavage and inhibition of mutated Factor V (FV:Q506) is impaired, which leads to increased thrombin generation, a hypercoagulable state, and a life-long increased risk of thrombosis.
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Dahlbäck, BjörnLund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups(Swepub:lu)klke-bda
(författare)
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Klinisk kemi, MalmöForskargrupper vid Lunds universitet
(creator_code:org_t)
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Ingår i:Current Opinion in Hematology2:5, s. 358-3641065-6251
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