VARIANT: 1675v1
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Entry
1675v1 Variant
Name
CFD mutation
Gene
CFD
complement factor D [KO:
K01334
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
134350
Network
nt06513
Complement cascade
Reference
PMID:
11457876
Authors
Biesma DH, Hannema AJ, van Velzen-Blad H, Mulder L, van Zwieten R, Kluijt I, Roos D
Title
A family with complement factor D deficiency.
Journal
J Clin Invest 108:233-40 (2001)
DOI:
10.1172/JCI12023
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