KEGG   VARIANT: 735v1
Entry
735v1                      Variant                                 
Name
C9 mutation
Gene
C9  complement C9 [KO:K04000]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120940
Network
nt06513  Complement cascade
Disease
H00103  Late complement pathway defects
H00821  Age-related macular degeneration
Reference
PMID:9570574
  Authors
Horiuchi T, Nishizaka H, Kojima T, Sawabe T, Niho Y, Schneider PM, Inaba S, Sakai K, Hayashi K, Hashimura C, Fukumori Y
  Title
A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese.
  Journal
J Immunol 160:1509-13 (1998)
Reference
PMID:31156618
  Authors
Park DH, Connor KM, Lambris JD
  Title
The Challenges and Promise of Complement Therapeutics for Ocular Diseases.
  Journal
Front Immunol 10:1007 (2019)
DOI:10.3389/fimmu.2019.01007
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