KEGG   VARIANT: 629v1
Entry
629v1                      Variant                                 
Name
CFB mutaion
Type
Loss of function
Gene
CFB  complement factor B [KO:K01335]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138470
Network
nt06513  Complement cascade
Disease
H00104  Alternative complement pathway component defects
H00821  Age-related macular degeneration
H01434  Atypical hemolytic uremic syndrome
Reference
  Authors
Slade C, Bosco J, Unglik G, Bleasel K, Nagel M, Winship I
  Title
Deficiency in complement factor B.
  Journal
N Engl J Med 369:1667-9 (2013)
DOI:10.1056/NEJMc1306326
Reference
  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
Reference
  Authors
Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M
  Title
Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era.
  Journal
Nephron 144:537-549 (2020)
DOI:10.1159/000508920
LinkDB

DBGET integrated database retrieval system