KEGG   VARIANT: 731v1
Entry
731v1                      Variant                                 
Name
C8A mutation
Gene
C8A  complement C8 alpha chain [KO:K03997]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120950
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
Reference
PMID:11435463
  Authors
de la Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, Caragol I, Ferrando M, Labrador M, Rodriguez-Sanchez JL, Espanol T
  Title
Familial CD8 deficiency due to a mutation in the CD8 alpha gene.
  Journal
J Clin Invest 108:117-23 (2001)
DOI:10.1172/JCI10993
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