The first confirmed case with C3 deficiency caused by compound heterozygous mutations in the C3 gene; a new aspect of pathogenesis for C3 deficiency
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference10 articles.
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2. Homozygous hereditary C3 deficiency due to a partial gene deletion;Botto;Proc. Natl. Acad. Sci. U. S. A.,1992
3. A case of C3 deficiency with a novel homozygous two-base deletion in the C3 gene;Fujioka;Am. J. Med. Genet. A,2005
4. A hereditary C3 deficiency due to aberrant splicing of exon 10;Huang;Clin. Immunol. Immunopathol.,1994
5. Inherited human complement C3 deficiency. An amino acid substitution in the beta-chain (ASP549 to ASN) impairs C3 secretion;Singer;J. Biol. Chem.,1994
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