Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A [PDF]
, 2016 Epub 2016 Nov 5Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles.
Arai, Shinpei +6 more
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A Case Report of Congenital Afibrinogenemia and Literature Review of Management of Post-circumcision Bleeding. [PDF]
Cureus, 2023 Khan I, Chow M, Chandra S, Hiatt M.
europepmc +1 more source
先天性無フィブリノゲン血症患者の分子遺伝学的解析 [PDF]
, 2018 浜松医科大学にて先天性無フィブリノゲン血症の患者を経験し、その遺伝子解析からフィブリノゲン(Fbg)を構成する遺伝子FGAに1238 bpの欠失を見出した。同時にウエスタンブロットによりFbgが血漿中には存在しないことを確認した。この患者の変異と同じFGAの欠失をFbg非産生の培養細胞株COS1を用い再現し、その動態について研究を行った。FGB、FGGと野生型FGAまたは、患者と同じ変異を加えた変異型FGAの3つの発現ベクターをCOS1細胞に共遺伝子導入し、Fbgの生合成・分泌に関して解析を行った ...
三浦 真希子 +5 more
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Pharmacokinetics, clot strength and safety of a new fibrinogen concentrate: randomized comparison with active control in congenital fibrinogen deficiency [PDF]
, 2018 Background: Human fibrinogen concentrate (HFC) corrects fibrinogen deficiency in congenital a-/hypofibrinogenemia. Objectives: To assess pharmacokinetics (PK), effects on thromboelastometry maximum clot firmness (MCF), and safety of a new double ...
A. Srivastava +12 more
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Endovascular Treatment for Lower-extremity Arterial Thrombosis in a Patient with Congenital Afibrinogenemia and a History of Bleeding Complications. [PDF]
Intern Med, 2022 Hiramatsu D +8 more
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Splicing mutations: making sense with antisense therapy [PDF]
, 2012 Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2012Galactose-1-phosphate uridylyltransferase (GALT) transfers a UMP group from UDP-glucose to Gal1P in the second step of the Leloir pathway for ...
Lourenço, Sílvia Pires, 1990-
core
Transfusion massive et coagulopathie-: physiopathologie et implications cliniques [PDF]
, 2018 Purpose: To review the pathophysiology of coagulopathy in massively transfused, adult and previously hemostatically competent patients in both elective surgical and trauma settings, and to recommend the most appropriate treatment strategies.
Hardy, Jean-François +2 more
core
PO07 | Liver transplant in a case of congenital afibrinogenemia
Bleeding, Thrombosis and Vascular BiologyBackground: Fibrinogen (FBG) is involved in the final steps of coagulation as a precursor of fibrin monomers. Inherited FBG disorders are generally classified as quantitative or qualitative.
doaj +1 more source