Results 51 to 60 of about 495 (105)

c.259A>C in the fibrinogen gene of alpha chain (FGA) is a fibrinogen with thrombotic phenotype

open access: yesThe Application of Clinical Genetics, 2019
Ophira Salomon,1 Ortal Barel,2 Eran Eyal,2 Reut Shnerb Ganor,3 Yeroham Kleinbaum,4 Mordechai Shohat2 1Institute of Thrombosis and Hemostasis, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; 2Cancer Research ...
Salomon O   +5 more
doaj  

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants

open access: yesHaematologica, 2008
Background Congenital afibrinogenemia is characterized by the absence of fibrinogen, a hexamer composed of two copies of three polypeptides, Aα. Bβ and γ. The disease is caused by mutations in one of the three fibrinogen-encoding genes, FGA, FGB and FGG.
Dung Vu   +2 more
doaj   +1 more source

Relationship between the dual platelet‐inhibited ROTEM® Sigma FIBTEM assay and Clauss fibrinogen during postpartum haemorrhage

open access: yes
Anaesthesia, Volume 80, Issue 1, Page 104-106, January 2025.
Sarah F. Bell   +4 more
wiley   +1 more source

Laboratory investigation of thrombophilia [PDF]

open access: yesJournal of Medical Biochemistry, 2014
Laboratory investigation of thrombophilia is aimed at detecting the well-established hereditary and acquired causes of venous thromboembolism, including activated protein C resistance/factor V Leiden mutation, prothrombin G20210A mutation, deficiencies ...
Margetić Sandra
doaj  

DYSFIBRINOGENEMIA DIAGNOSED BASED ON THE CLAUSS FIBRINOGEN ASSAY

open access: diamond, 2023
Tatsuya Konishi   +9 more
openalex   +2 more sources

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family

open access: yesHereditas
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie   +5 more
doaj   +1 more source

Severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute lymphoblastic leukaemia/lymphoma: a case report

open access: yesFrontiers in Cardiovascular Medicine
The most frequent haematological malignancy associated with acquired hypo/dysfibrinogenemia is multiple myeloma. We present an unusual case of severe haemorrhagic diathesis due to acquired hypofibrinogenemia in a patient with early T-cell precursor acute
Luca Spiezia   +4 more
doaj   +1 more source

The FGG c.952G>A variant causes congenital dysfibrinogenemia characterized by recurrent cerebral infarction: a case report

open access: yesFrontiers in Neurology
BackgroundCongenital dysfibrinogenemia (CD) is a rare hereditary coagulation disorder resulting from mutations in fibrinogen genes. CD primarily presents with bleeding symptoms, but it can also lead to thrombotic events, including ischemic stroke.Case ...
Anna Ying   +10 more
doaj   +1 more source

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