Search Results - "Taniguchi, Fumina"
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Causative genetic mutations for antithrombin deficiency and their clinical background among Japanese patients
Published in International journal of hematology (01-03-2017)“…We summarize causative genetic mutations for antithrombin (AT) deficiency and their clinical background in Japanese patients. A total of 19 mutations,…”
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Fulminant bilateral cerebral infarction caused by paradoxical embolism in a patient with protein S Ala525Val substitution
Published in Neurology and clinical neuroscience (01-05-2015)“…We report a 42‐year‐old woman who developed sudden fulminant cerebral infarction in the bilateral middle cerebral artery territories, causing status…”
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Gene analysis of six cases of congenital protein S deficiency and functional analysis of protein S mutations (A139V, C449F, R451Q, C475F, A525V and D599TfsTer13)
Published in Thrombosis research (01-03-2017)“…Abstract Congenital deficiency of protein S (PS), an anticoagulant factor, leads to venous thrombosis, with onset predominantly beginning in adolescence. In…”
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Asymptomatic Dysprothrombinemia (Prothtombin Himi) with p.M380T and p.R431H Shows Severely Reduced Clotting Activity, Moderate Antithrombin Resistance and Severe Thrombomodulin Binding Defect
Published in Blood (02-12-2016)“…Background and purpose:Congenital prothrombin (PT) deficiency is categorized into two phenotypes, true hypoprothrombinemia and dysprothrombinemia. A strong…”
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Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency
Published in Thrombosis research (01-06-2015)“…Highlights • This case report described two patients with compound heterozygote PS deficiency. • In two cases, we identified Ala139Val and c.2135delA mutation…”
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Late onset thrombosis in two Japanese patients with compound heterozygote protein S deficiency
Published in Thrombosis research (01-06-2015)Get full text
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