Associated Papers
Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency.
da Silva KR et al.
Immunobiology, 2016
A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene.
Fujioka H et al.
American Journal of Medical Genetics. Part A, 2005
Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters.
Matsuyama W et al.
Internal Medicine (tokyo, Japan), 2001
Identification of a novel mutation (Tyr1081Ter) in sisters with hereditary component C3 deficiency and SLE-like symptoms.
Matsuyama W et al.
Human Mutation, 2001
The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency.
Kida M et al.
Blood Cells, Molecules & Diseases, 0
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