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About 246 results

ALLMedicine™ Factor V Deficiency Center

Research & Reviews  123 results

Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V defici...
https://doi.org/10.1097/MBC.0000000000001036
Blood Coagulation & Fibrinolysis : an International Journ... Maharaj S, Saenz Ayala S et. al.

Mar 26th, 2021 - Congenital factor V deficiency (FVD) is a rare bleeding disorder. In this study, we investigated the genetic basis in an African American patient with factor V activity 3%. Custom sequence capture and targeted next-generation (NGS) sequencing of t...

Factor V Deficiency (Owren's Disease) in a Patient at High Risk for Transfusion-Associa...
https://doi.org/10.1053/j.jvca.2021.02.026
Journal of Cardiothoracic and Vascular Anesthesia; Fitzsimons MG, Barrett C et. al.

Mar 21st, 2021 - Congenital factor V deficiency is an extremely rare abnormality and may be associated with significant bleeding as a result of trauma or surgery. Perioperative management primarily includes the administration of fresh frozen plasma to replace the ...

A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V ...
https://doi.org/10.1097/MBC.0000000000001003
Blood Coagulation & Fibrinolysis : an International Journ... Su K, Wang L et. al.

Jan 14th, 2021 - The current study aims to explore the phenotype and genotype of a novel mutation (Ser951LeufsTer8) of F5 gene combined with polymorphism (R485K) in a family of hereditary coagulation factor V deficiency. The factor V activity and antigen were test...

Analysis of phenotype and genotype of a family with hereditary coagulation factor V def...
https://doi.org/10.1097/MBC.0000000000000946
Blood Coagulation & Fibrinolysis : an International Journ... Luo S, Liu S et. al.

Aug 24th, 2020 - : To analyze the causative gene and the molecular pathogenesis in a pedigree with compound hereditary coagulation factor V deficiency. Routine blood coagulation indexes and factor V antigen (FV:Ag) were detected by the one-stage clotting method an...

Successful correction of factor V deficiency of patient-derived iPSCs by CRISPR/Cas9-me...
https://doi.org/10.1111/hae.14104
Haemophilia : the Official Journal of the World Federatio... Nakamura T, Morishige S et. al.

Jul 23rd, 2020 - Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells ...

see more →

Clinicaltrials.gov  123 results

Novel splicing (c.6529-1G>T) and missense (c.1667G>A) mutations causing factor V defici...
https://doi.org/10.1097/MBC.0000000000001036
Blood Coagulation & Fibrinolysis : an International Journ... Maharaj S, Saenz Ayala S et. al.

Mar 26th, 2021 - Congenital factor V deficiency (FVD) is a rare bleeding disorder. In this study, we investigated the genetic basis in an African American patient with factor V activity 3%. Custom sequence capture and targeted next-generation (NGS) sequencing of t...

Factor V Deficiency (Owren's Disease) in a Patient at High Risk for Transfusion-Associa...
https://doi.org/10.1053/j.jvca.2021.02.026
Journal of Cardiothoracic and Vascular Anesthesia; Fitzsimons MG, Barrett C et. al.

Mar 21st, 2021 - Congenital factor V deficiency is an extremely rare abnormality and may be associated with significant bleeding as a result of trauma or surgery. Perioperative management primarily includes the administration of fresh frozen plasma to replace the ...

A novel mutation (Ser951LeufsTer8) in F5 gene leads to hereditary coagulation factor V ...
https://doi.org/10.1097/MBC.0000000000001003
Blood Coagulation & Fibrinolysis : an International Journ... Su K, Wang L et. al.

Jan 14th, 2021 - The current study aims to explore the phenotype and genotype of a novel mutation (Ser951LeufsTer8) of F5 gene combined with polymorphism (R485K) in a family of hereditary coagulation factor V deficiency. The factor V activity and antigen were test...

Analysis of phenotype and genotype of a family with hereditary coagulation factor V def...
https://doi.org/10.1097/MBC.0000000000000946
Blood Coagulation & Fibrinolysis : an International Journ... Luo S, Liu S et. al.

Aug 24th, 2020 - : To analyze the causative gene and the molecular pathogenesis in a pedigree with compound hereditary coagulation factor V deficiency. Routine blood coagulation indexes and factor V antigen (FV:Ag) were detected by the one-stage clotting method an...

Successful correction of factor V deficiency of patient-derived iPSCs by CRISPR/Cas9-me...
https://doi.org/10.1111/hae.14104
Haemophilia : the Official Journal of the World Federatio... Nakamura T, Morishige S et. al.

Jul 23rd, 2020 - Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells ...

see more →