KEGG   VARIANT: 5648v1
Entry
5648v1                      Variant                                
Name
MASP1 mutation
Gene
MASP1  MBL associated serine protease 1 [KO:K03992]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600521
Network
nt06513  Complement cascade
Disease
H01887  3MC syndrome
Reference
PMID:21258343
  Authors
Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL
  Title
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
  Journal
Nat Genet 43:197-203 (2011)
DOI:10.1038/ng.757
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