The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency
Tài liệu tham khảo
Botto, 1990, Molecular basis of hereditary C3 deficiency, J. Clin. Invest., 86, 1158, 10.1172/JCI114821
Botto, 1992, Homozygous hereditary C3 deficiency due to a partial gene deletion, Proc. Natl. Acad. Sci. U. S. A., 89, 4957, 10.1073/pnas.89.11.4957
Fujioka, 2005, A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene, Am. J. Med. Genet. A, 138, 399, 10.1002/ajmg.a.30964
Huang, 1994, A hereditary C3 deficiency due to aberrant splicing of exon 10, Clin. Immunol. Immunopathol., 73, 267, 10.1006/clin.1994.1197
Singer, 1994, Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion, J. Biol. Chem., 269, 28494, 10.1016/S0021-9258(18)46954-2
Tsukamoto, 2000, Molecular analysis of human complement C3 deficiency with systemic lupus erythematosus, Jpn. J. Rheumatol., 40, 418
Matsuyama, 2001, Molecular analysis of hereditary deficiency of the third component of complement (C3) in two sisters, Intern. Med., 40, 1254, 10.2169/internalmedicine.40.1254
Da Silva Reis, 2002, Homozygous hereditary C3 deficiency due to a premature stop codon, J. Clin. Immunol., 22, 321, 10.1023/A:1020665614139
de Bruijn, 1985, Human complement component C3 cDNA cording sequence and derived primary structure, Proc. Natl. Acad. Sci., 82, 708, 10.1073/pnas.82.3.708
Fong, 1990, Genomic organization of human complement component C3, Genomics, 7, 579, 10.1016/0888-7543(90)90202-6