KEGG   VARIANT: 10747v1
Entry
10747v1                      Variant                               
Name
MASP2 mutation
Type
Loss of function
Gene
MASP2  MBL associated serine protease 2 [KO:K03993]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605102
Network
nt06513  Complement cascade
Disease
H00105  Mannose-binding lectin pathway component defects
Reference
PMID:12904520
  Authors
Stengaard-Pedersen K, Thiel S, Gadjeva M, Moller-Kristensen M, Sorensen R, Jensen LT, Sjoholm AG, Fugger L, Jensenius JC
  Title
Inherited deficiency of mannan-binding lectin-associated serine protease 2.
  Journal
N Engl J Med 349:554-60 (2003)
DOI:10.1056/NEJMoa022836
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