KEGG   VARIANT: 4153v1
Entry
4153v1                      Variant                                
Name
MBL2 mutation
Type
Loss of function
Gene
MBL2  mannose binding lectin 2 [KO:K03991]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 154545
Network
nt06513  Complement cascade
Disease
H00105  Mannose-binding lectin pathway component defects
Reference
PMID:7707811
  Authors
Summerfield JA, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil MA, Turner MW
  Title
Mannose binding protein gene mutations associated with unusual and severe infections in adults.
  Journal
Lancet 345:886-9 (1995)
DOI:10.1016/s0140-6736(95)90009-8
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