KEGG   VARIANT: 732v1
Entry
732v1                      Variant                                 
Name
C8B mutation
Type
Loss of function
Gene
C8B  complement C8 beta chain [KO:K03998]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120960
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
Reference
PMID:7594510
  Authors
Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM, Densen P
  Title
Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis.
  Journal
J Immunol 155:5022-8 (1995)
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