A case of C3 deficiency with a novel homozygous two-base deletion in theC3 gene
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference12 articles.
1. Molecular basis of hereditary C3 deficiency.
2. Homozygous hereditary C3 deficiency due to a partial gene deletion.
3. Human complement component C3: cDNA coding sequence and derived primary structure.
4. Genomic organization of human complement component C3
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1. Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency;Immunobiology;2016-05
2. Clinical characteristics and genotype-phenotype correlations in C3 deficiency;Journal of Allergy and Clinical Immunology;2016-02
3. Deficiencies of the Complement System;Stiehm's Immune Deficiencies;2014
4. Novel compound heterozygous mutations in the C3 gene: hereditary C3 deficiency;Pediatrics International;2011-04
5. Autoimmunity and recurrent infections in partial complement C3 immunodeficiency;Rheumatology;2010-01-04
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