KEGG   VARIANT: 2162v1
Entry
2162v1                      Variant                                
Name
F13A1 mutation
Type
Loss of function
Gene
F13A1  coagulation factor XIII A chain [KO:K03917]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134570
Network
nt06514  Coagulation cascade
Disease
H00945  Factor XIII deficiency
H01730  Myocardial infarction
Reference
PMID:9028951
  Authors
Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A
  Title
Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA.
  Journal
Blood 89:1279-87 (1997)
Reference
  Authors
Ambroziak M, Kurylowicz A, Budaj A
  Title
Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients.
  Journal
J Thromb Thrombolysis 48:519-527 (2019)
DOI:10.1007/s11239-019-01856-3
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