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Rapid genotyping of...
Rapid genotyping of haemostatic gene polymorphisms using the 5' nuclease assay.
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- Tjärnlund, Anna, 1974 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap,Institute of Clinical Neurosciences
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- Andersson, Maria (författare)
- Gothenburg University,Göteborgs universitet,Hjärt-kärlinstitutionen,Cardiovascular Institute
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- Jood, Katarina, 1966 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap,Institute of Clinical Neurosciences
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visa fler...
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- Ladenvall, Per, 1972 (författare)
- Gothenburg University,Göteborgs universitet,Hjärt-kärlinstitutionen,Cardiovascular Institute
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- Jern, Christina, 1962 (författare)
- Gothenburg University,Göteborgs universitet,Institutionen för klinisk neurovetenskap,Institute of Clinical Neurosciences
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visa färre...
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(creator_code:org_t)
- 2003
- 2003
- Engelska.
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Ingår i: Thrombosis and haemostasis. - 0340-6245. ; 89:5, s. 936-42
- Relaterad länk:
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https://gup.ub.gu.se...
Abstract
Ämnesord
Stäng
- Hemostatic gene polymorphisms have been shown to be associated with arterial and venous thrombotic disease. To date these polymorphisms have mainly been detected by labor-intensive conventional gel based methods. Aim of the present study was to design and optimize high throughput 5' nuclease assays for the detection of a set of 10 single-nucleotide polymorphisms (SNP) in genes of importance for hemostasis: plasminogen activator inhibitor type 1 -675 4G>5G, thrombin activatable fibrinolysis inhibitor Ala147Thr and 1,542C>G, beta-fibrinogen -455G>A, von Willebrand factor -1,051A>G, factor VII Arg353Gln, factor XIII Val34Leu, prothrombin 20,210G>A, tissue factor pathway inhibitor -287T>C, and methylenetetrahydrofolate reductase 1,298A>C. Specificity of each genotyping assay was confirmed by sequence-based typing and reproducibility was evaluated by repeated genotyping. The genotyping protocols presented here may serve as a valuable tool for clinical researchers interested in exploring associations between these SNPs and thrombotic disease.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Nyckelord
- Blood Coagulation Factors
- genetics
- Blood Proteins
- genetics
- Diagnosis
- Computer-Assisted
- Genetic Screening
- methods
- Genotype
- Hemostasis
- genetics
- Humans
- Polymerase Chain Reaction
- methods
- Polymorphism
- Single Nucleotide
- Thrombophilia
- diagnosis
- genetics
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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