Heterozygous factor V Leiden mutation manifesting with combined central retinal vein occlusion, cilioretinal artery occlusion, branch retinal artery occlusion, and anterior ischaemic optic neuropathy: a case reportCentral retinal vein occlusionCilioretinal artery occlusion...
(redirected fromFactor V Leiden mutation) Thesaurus Medical Legal Acronyms Encyclopedia mu·ta·tion (myo͞o-tā′shən) n. 1.The act or process of being altered or changed. 2.An alteration or change, as in nature, form, or quality. ...
Activated protein C resistance, caused by a point mutation factor V gene was described in last decade. This article highlights a case of a 9 year-old-boy who admitted to Ba艧kent University Hospital with right- sided hemiplegia. He was diagnosed as heterozygous for the FVL muta- tion and ...
Idiopathic Budd-Chiari syndrome in a patient with homozygous factor Leiden and heterozygous Factor G20210A mutation on the prothrombin gene. de Stefano V,... VD Stefano,P Madonna,A Giannino,... - 《Thrombosis Research》 被引量: 22发表: 2000年 Double-homozygosity for factor V Leiden and the...
in heterozygous carriers and 80 fold in homozygous carriers [1]. The mean age of symptom onset is 31 to 44 years, but some heterozygous carriers can be asymptomatic [2]. In the United States, Factor V Leiden is most prevalent in White individuals, with an estimated frequency of 5% [1]....
The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospec... Factor V Leiden (FVL) and prothrombin G20210A mutation (PTM) are the two most common genetic polymorphisms known to predispose to a first...
heterozygous individuals. The heterozygous individual still has some functional factor V that can initiate aPC activity towards anticoagulation. Though factor V Leiden is associated with increased clotting, it is not as strongly correlated with pulmonary embolism, retinal vein thrombosis, and arterial ...
F5F8D patients are associated with known consanguinity and/or are homozygous for a single mutation, suggesting that the geographic distribution of this disease is due at least in part to the varying prevalence of consanguineous marriages rather than specific positive selection for heterozygous carriers....
Prandoni, "The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective stud- ies," Haematologica, vol. 92, no. 8, pp. 1107–1114, 2007. [22] U. Nowak-Go¨ttl, R. Junker, W. Kreuz et ...
Subsequently, whole exome sequencing was undertaken leading to the identification of two novel, heterozygous variants in the TSFM gene (NM_001172697.1): one frameshift mutation, c.408_409delGT p.(Leu137Glyfs*24) and a missense variant, c.505C > T p.(Leu169Phe) (Fig. 3A). TSFM ...