Sökning: onr:"swepub:oai:lup.lub.lu.se:e37df426-e3a7-4f8c-9c21-1cbaf68e7cc2" > Inherited resistanc...
Fältnamn | Indikatorer | Metadata |
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000 | 03561naa a2200409 4500 | |
001 | oai:lup.lub.lu.se:e37df426-e3a7-4f8c-9c21-1cbaf68e7cc2 | |
003 | SwePub | |
008 | 171019s1996 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/e37df426-e3a7-4f8c-9c21-1cbaf68e7cc22 URI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Dahlbäck, Björnu Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)klke-bda |
245 | 1 0 | a Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis |
264 | 1 | c 1996 |
300 | a 14 s. | |
520 | a Inherited resistance to activated protein C (APC) was recently discovered as a cause of familial thrombophilia and is now known to be the most common genetic risk factor for venous thrombosis. In a majority of cases, APC resistance is associated with a single point mutation in the factor V gene, which results in substitution of arginine (R) at position 506 by glutamine (Q) (FV:Q506). The mutation renders factor Va partially resistant to degradation by activated protein C (APC), which leads to a hypercoagulable state and a life-long 5-10-fold increased risk of venous thrombosis. The previously known inherited deficiencies of antithrombin, protein S or protein C, are in western societies together found in less than 10-15% of thrombosis patients, whereas APC resistance is present in 20 to 60% of the patients. A functional APC resistance test, which includes predilution of the patient plasma with factor V deficient plasma, is 100% sensitive and specific for the presence of FV:Q506. The FV:Q506 allele is common in populations of Caucasian origin (prevalence ranging between 1 and 15%), whereas it is not found in certain other ethnic groups such as in Japanese and Chinese. The thrombotic risk in individuals with APC resistant may be further increased by other genetic defects such as protein C or protein S deficiency and by exposure to circumstantial risk factors such as oral contraceptives, pregnancy, immobilisation and surgery. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Läkemedelskemi0 (SwePub)301032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medicinal Chemistry0 (SwePub)301032 hsv//eng |
653 | a hypercoagulable states | |
653 | a resistance to activated protein C | |
653 | a venous thrombosis | |
653 | a activated protein C resistance | |
653 | a amino acid substitution | |
653 | a conference paper | |
653 | a ethnic group | |
653 | a human | |
653 | a hypercoagulability | |
653 | a priority journal | |
653 | a vein thrombosis | |
700 | 1 | a Zöller, Bengtu Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)medf-bzo |
700 | 1 | a Hillarp, Andreasu Lund University,Lunds universitet,Klinisk kemi, Malmö,Forskargrupper vid Lunds universitet,Clinical Chemistry, Malmö,Lund University Research Groups4 aut0 (Swepub:lu)klke-ahi |
710 | 2 | a Klinisk kemi, Malmöb Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Haemostasisg 26:SUPPL. 4, s. 301-314q 26:SUPPL. 4<301-314x 0301-0147 |
856 | 4 8 | u https://lup.lub.lu.se/record/e37df426-e3a7-4f8c-9c21-1cbaf68e7cc2 |
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