KEGG   VARIANT: 713v1
Entry
713v1                      Variant                                 
Name
C1QB mutation
Gene
C1QB  complement C1q B chain [KO:K03987]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120570
Network
nt06513  Complement cascade
Disease
H00102  Classic complement pathway component defects
Reference
PMID:2894352
  Authors
McAdam RA, Goundis D, Reid KB
  Title
A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
  Journal
Immunogenetics 27:259-64 (1988)
DOI:10.1007/BF00376120
Reference
PMID:24160257
  Authors
Higuchi Y, Shimizu J, Hatanaka M, Kitano E, Kitamura H, Takada H, Ishimura M, Hara T, Ohara O, Asagoe K, Kubo T
  Title
The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report.
  Journal
Pediatr Rheumatol Online J 11:41 (2013)
DOI:10.1186/1546-0096-11-41
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