KEGG   VARIANT: 2243v1
Entry
2243v1                      Variant                                
Name
FGA mutation
Type
Loss of function
Gene
FGA  fibrinogen alpha chain isoform alpha-E preproprotein [KO:K03903]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134820
Network
nt06514  Coagulation cascade
nt06546  IgSF CAM signaling
nt06548  Integrin signaling
Disease
H00222  Congenital fibrinogen deficiency
H00845  Familial amyloidosis
Reference
PMID:32623564
  Authors
Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C
  Title
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
  Journal
J Thromb Thrombolysis 51:359-369 (2021)
DOI:10.1007/s11239-020-02203-7
Reference
PMID:16855369
  Authors
Neerman-Arbez M
  Title
Molecular basis of fibrinogen deficiency.
  Journal
Pathophysiol Haemost Thromb 35:187-98 (2006)
DOI:10.1159/000093566
Reference
PMID:27554450
  Authors
Kell DB, Pretorius E
  Title
Proteins behaving badly. Substoichiometric molecular control and amplification of the initiation and nature of amyloid fibril formation: lessons from and for blood clotting.
  Journal
Prog Biophys Mol Biol 123:16-41 (2017)
DOI:10.1016/j.pbiomolbio.2016.08.006
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