نتایج جستجو برای: factor v leiden mutation

تعداد نتایج: 1368807  

Journal: :JNCI Journal of the National Cancer Institute 2010

Journal: :Singapore medical journal 2012
Angeline Anning Yong Audrey Wei Hsia Tan Yoke Chin Giam Mark Boon Yang Tang

Livedoid vasculopathy is a rare chronic relapsing disorder characterised by recurrent painful thrombotic and vasculitic ulcers on the legs. We present the cases of two Indian women with livedoid vasculopathy that were found to be associated with an underlying factor V Leiden heterozygous mutation. There were no other thrombotic manifestations, and livedoid vasculopathy was the sole presenting f...

Journal: :Human reproduction 1999
B S Horstkamp H Kiess J Krämer H Riess W Henrich J W Dudenhausen

A common mutation in the factor V gene, the Leiden mutation, is the most frequent genetic cause of resistance to activated protein C (APC). Recent studies have shown that the prevalence of APC resistance is associated with severe pregnancy-induced hypertension (PIH). Our objective was to determine whether the factor V Leiden mutation is more prevalent in patients who developed severe PIH than i...

Journal: :European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies 1997
K H Reuner F Litfin H Patscheke

Blood samples from 104 patients with clinically suspected thrombophilia were analyzed for coagulation factor V Leiden mutation (1691, G-->A) by allele-specific polymerase chain reaction. In 86 individuals (82.7%), the mutation was not detectable, whereas 15 patients (14.4%) were heterozygous and three patients (2.9%) were homozygous for factor V Leiden mutation. Plasma samples from these indivi...

Journal: :Asian Pacific journal of allergy and immunology 2000
W Prayoonwiwat P Arnutti M Hiyoshi O Nathalang C Suwanasophon R Kokaseam T Krutvecho N Tatsumi

The molecular defect underlying activated protein C resistance (APC-R) is caused by a G to A point mutation in the codon for arginine 506 in the factor V gene (factor V Leiden) which is a major risk factor for venous thrombosis, especially in Caucasian populations. This study is an analysis of the Thai population to determine the prevalence of the factor V Leiden mutation. Twenty-seven patients...

Journal: :Blood 1997
C van 't Veer N J Golden M Kalafatis P Simioni R M Bertina K G Mann

The classification of factor VIII deficiency, generally used based on plasma levels of factor VIII, consists of severe (<1% normal factor VIII activity), moderate (1% to 4% factor VIII activity), or mild (5% to 25% factor VIII activity). A recent communication described four individuals bearing identical factor VIII mutations. This resulted in a severe bleeding disorder in two patients who carr...

Journal: :iranian journal of blood and cancer 0
mohammad pedram bijan keikhaei afshin fathi firoozeh dehyouri

background: sickle cell disease occurs due to a mutation in β chains and the substitution of valine instead of glutamate in the sixth position of the ß-chain that causes polymerization and vascular blockage. the aim of this study was to compare the serum c, s proteins and factor v leiden between sickle cell patients and the control group. materials and methods: in this case-control study, perfo...

Journal: :Journal of Korean Medical Science 1998
T. W. Kim W. K. Kim J. H. Lee S. B. Kim S. W. Kim C. Suh K. H. Lee J. S. Lee E. J. Seo H. S. Chi S. H. Kim

Activated protein C (APC) is a naturally occurring anticoagulant that interacts with factor V and VIII to inhibit the clotting cascade. The prevalence of APC resistance among Korean patients with deep vein thrombosis is ill defined. The aim of the present study was to investigate the prevalence of APC resistance and factor V Leiden mutation in Korean patients with deep vein thrombosis. The pres...

2009

● Mutations in several different genes are associated with an increased risk for venous thrombosis (VT). ● The lifetime risk for VT associated with the most common mutations is modest. For example, the lifetime risk for VT associated with factor V Leiden, a gene variant present in 5% of individuals of European descent, is estimated to be about 12% to 20%. ● However, inheritance of two copies of...

2012
Samieh Karimi Majid Yavarian Azadeh Azinfar Minoo Rajaei Maryam Azizi Kootenaee

BACKGROUND Role of genetic factors in etiology of preeclampsia is not confirmed yet. OBJECTIVE Gene defect frequency varies in different geographic areas as well as ethnic groups. In this study, the role of factor V Leiden mutation in the pathogenesis of preeclampsia syndrome among the pregnant population of northern shore of Persian Gulf in Iran, were considered. MATERIALS AND METHODS Betw...

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