KEGG   VARIANT: 720v1
Entry
720v1                      Variant                                 
Name
C4A mutation
Gene
C4A  complement C4A (Chido/Rodgers blood group) [KO:K03989]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120810
Network
nt06513  Complement cascade
Disease
H00102  Classic complement pathway component defects
Reference
PMID:2295875
  Authors
Braun L, Schneider PM, Giles CM, Bertrams J, Rittner C
  Title
Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus.
  Journal
J Exp Med 171:129-40 (1990)
DOI:10.1084/jem.171.1.129
Reference
  Authors
Boteva L, Morris DL, Cortes-Hernandez J, Martin J, Vyse TJ, Fernando MM
  Title
Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.
  Journal
Am J Hum Genet 90:445-56 (2012)
DOI:10.1016/j.ajhg.2012.01.012
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