KEGG   VARIANT: 1604v1
Entry
1604v1                      Variant                                
Name
CD55 mutation
Type
Loss of function
Gene
CD55  CD55 molecule (Cromer blood group) [KO:K04006]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 125240
Network
nt06513  Complement cascade
Disease
H00106  Complement regulatory protein defects
Reference
  Authors
Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ
  Title
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
  Journal
N Engl J Med 377:52-61 (2017)
DOI:10.1056/NEJMoa1615887
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