Thrombophilic defects, such as factor V Leiden (FVL) gene mutation may play a role in the pathogenesis of thrombosis in Behcet's disease (BD). Recently, an association of FVL mutation with thrombosis and ocular involvement in BD has been reported. The object of this present study was to ...
gene mutation,point mutation- (genetics) a mutation due to an intramolecular reorganization of a gene reversion- (genetics) a return to a normal phenotype (usually resulting from a second mutation) saltation- (genetics) a mutation that drastically changes the phenotype of an organism or species ...
遗传阻断导读:Factor V Leiden易栓症是一种儿科疾病。佳学基因对Factor V Leiden易栓症的发生进行了基因解码,并将之收入《人的基因序列变化与人体疾病表征》中,便于医生选择和使用,进行Factor V Leiden易栓症遗传阻断,也便于患者更好地进行治疗和健康管理。
Factor V Leiden refers to the c.1691G>A variant in the FV gene, which encodes coagulation factor V. This variant results in resistance to factor V protein degradation by activated protein C and increases the risk of VTE 6 to 8 fold in heterozygous carriers and 80 fold in homozygous carrier...
Synonyms for Factor V Leiden mutation in Free Thesaurus. Antonyms for Factor V Leiden mutation. 34 synonyms for mutation: anomaly, variation, deviant, freak of nature, change, variation, evolution, transformation, modification, alteration, deviation...
目的FV Leiden突变是导致静脉血栓栓塞(VTE)的最常见的遗传因素,然而该突变与缺血性脑血管病(ICVD)的关系尚不明确,而且其分布存在种族差异。 OBJECTIVE: The Factor V Leiden mutation(FVL mutation) represents the mos...
The incidence of deep vein thrombosis (DVT) in individuals with heterozygous Factor V Leiden mutation is low. However, DVT risk may be substantially increased when accompanied by nephrotic syndrome. Anticoagulation remains the mainstay of therapy but intervention may be necessary in clinically severe ...
Voelkerding KV, Wu L, Williams EC, et al.: Factor V R506Q gene mutation analysis by PCR-RFLP. Am J Clin Pathol 1996;106:100–106 PubMed CAS Google Scholar Lay MJ, Wittwer CT: Real-time fluorescence genotyping of factor V Leiden during rapid-cycle PCR. Clin Chem 1997;43:2262–226...
factor V Lei·den -ˈlī-dᵊn 1 : a point mutation producing an abnormal version of factor V that is resistant to inactivation and causes prolonged clotting of blood 2 also factor V Leiden thrombophilia : a genetic disorder caused by factor V Leiden that is marked by an ...
A single missense mutation (R506Q) due to a G/A transition (G1691A) in exon 10 of the factor V gene is regarded as the causative molecular defect, resulting in factor V Leiden which is correlated with APCR. Identification of this mutation by polymerase chain reaction-based methods is ...