VARIANT: 729v1
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Entry
729v1 Variant
Name
C6 mutation
Gene
C6
complement C6 [KO:
K03995
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
217050
Network
nt06513
Complement cascade
Disease
H00103
Late complement pathway defects
Reference
PMID:
8690922
Authors
Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE
Title
Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals.
Journal
J Immunol 156:2309-15 (1996)
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