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
Clinical characteristics and genotype-phenotype correlations in C3 deficiency.
Okura Y et al.
The Journal of Allergy and Clinical Immunology, 2016
Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency.
Okura Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Clinical aspects and molecular basis of primary deficiencies of complement component C3 and its regulatory proteins factor I and factor H.
S Reis E et al.
Scandinavian Journal of Immunology, 2006
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 a novel hereditary C3 deficiency with systemic lupus erythematosus.
Tsukamoto H et al.
Biochemical and Biophysical Research Communications, 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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