KEGG   VARIANT: 721v1
Entry
721v1                      Variant                                 
Name
C4B mutation
Type
Loss of function
Gene
C4B  complement C4B (Chido/Rodgers blood group) [KO:K03989]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120820
Network
nt06513  Complement cascade
Disease
H00102  Classic complement pathway component defects
Reference
PMID:7451653
  Authors
Awdeh ZL, Ochs HD, Alper CA
  Title
Genetic analysis of C4 deficiency.
  Journal
J Clin Invest 67:260-3 (1981)
DOI:10.1172/JCI110021
Reference
  Authors
Kumar A, Teuber SS, Gershwin ME.
  Title
Current perspectives on primary immunodeficiency diseases.
  Journal
Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705
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