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L773:0301 0147 OR L773:1423 0038
 

Sökning: L773:0301 0147 OR L773:1423 0038 > Inherited resistanc...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003561naa a2200409 4500
001oai:lup.lub.lu.se:e37df426-e3a7-4f8c-9c21-1cbaf68e7cc2
003SwePub
008171019s1996 | |||||||||||000 ||eng|
024a https://lup.lub.lu.se/record/e37df426-e3a7-4f8c-9c21-1cbaf68e7cc22 URI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
100a 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
2451 0a Inherited resistance to activated protein C caused by presence of the FV:Q506 allele as a basis of venous thrombosis
264 1c 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 7a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Läkemedelskemi0 (SwePub)301032 hsv//swe
650 7a 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
700a 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
700a 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
710a Klinisk kemi, Malmöb Forskargrupper vid Lunds universitet4 org
773t Haemostasisg 26:SUPPL. 4, s. 301-314q 26:SUPPL. 4<301-314x 0301-0147
8564 8u https://lup.lub.lu.se/record/e37df426-e3a7-4f8c-9c21-1cbaf68e7cc2

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Dahlbäck, Björn
Zöller, Bengt
Hillarp, Andreas
Om ämnet
MEDICIN OCH HÄLSOVETENSKAP
MEDICIN OCH HÄLS ...
och Medicinska och f ...
och Läkemedelskemi
Artiklar i publikationen
Haemostasis
Av lärosätet
Lunds universitet

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