KEGG   VARIANT: 712v1
Entry
712v1                      Variant                                 
Name
C1QA mutation
Type
Loss of function
Gene
C1QA  complement C1q A chain [KO:K03986]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120550
Network
nt06513  Complement cascade
nt06535  Efferocytosis
Disease
H00102  Classic complement pathway component defects
Reference
PMID:8840296
  Authors
Topaloglu R, Bakkaloglu A, Slingsby JH, Mihatsch MJ, Pascual M, Norsworthy P, Morley BJ, Saatci U, Schifferli JA, Walport MJ
  Title
Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.
  Journal
Kidney Int 50:635-42 (1996)
DOI:10.1038/ki.1996.359
Reference
PMID:9225968
  Authors
Petry F, Berkel AI, Loos M
  Title
Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis.
  Journal
Hum Genet 100:51-6 (1997)
DOI:10.1007/s004390050464
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