fibrinogen Nieuwegein

has a homozygous insertion of a single nucleotide (C) in codon Aalpha 453 (Pro) which introduced a stop codon at position 454 resulting in the deletion of the carboxyl-terminal segment Aalpha 454-610

Networked: 2 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Blood Proteins: 12459
    - Blood Coagulation Factors: 5376
      - Fibrinogen: 15409
        Abnormal Fibrinogens: 8
        fibrinogen Nieuwegein: 2
    - Acute-Phase Proteins: 5159
      - Fibrinogen: 15409
        Abnormal Fibrinogens: 8
        fibrinogen Nieuwegein: 2
Biological Factors: 2472
- Blood Coagulation Factors: 5376
  - Fibrinogen: 15409
    - Abnormal Fibrinogens: 8
      - fibrinogen Nieuwegein: 2

Experts

1.	Casini, Alessandro: 1 article (01/2018)
2.	De Bisschop, Barbara: 1 article (01/2018)
3.	Govaert, Paul: 1 article (01/2018)
4.	Herpol, Margaux: 1 article (01/2018)
5.	Jochmans, Kristin: 1 article (01/2018)
6.	Neerman-Arbez, Marguerite: 1 article (01/2018)
7.	Orlando, Christelle: 1 article (01/2018)
8.	Tajdar, Mercedeh: 1 article (01/2018)
9.	Biesma, D H: 1 article (02/2001)
10.	Collen, A: 1 article (02/2001)

Related Diseases

1.	Congenital Dysfibrinogenemia 01/01/2018 - "We document a clinical case of congenital dysfibrinogenemia, caused by heterozygosity for the mutation FGA p.Asp473Ter, previously reported as fibrinogen Nieuwegein in homozygosity in an asymptomatic patient. " 02/15/2001 - "A congenital dysfibrinogenemia, fibrinogen(Nieuwegein), was discovered in a young man without any thromboembolic complications or bleeding. "
2.	Intracranial Thrombosis (Cerebral Thrombosis) 01/01/2018 - "Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis."
3.	Hemorrhage 02/15/2001 - "A congenital dysfibrinogenemia, fibrinogen(Nieuwegein), was discovered in a young man without any thromboembolic complications or bleeding. "