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Skipping of exon 27 in C3 gene compromises TED domain and results in complete human C3 deficiency

  • Published:2016-05 Issue:5 Volume:221 Page:641-649
  • ISSN:0171-2985
  • Container-title:Immunobiology
  • language:en
  • Short-container-title:Immunobiology

Author:

Silva Karina Ribeiro da,Fraga Tatiana Rodrigues,Lucatelli Juliana Faggion,Grumach Anete Sevciovic,Isaac Lourdes

Funder

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Publisher

Elsevier BV

Subject

Hematology,Immunology,Immunology and Allergy

Reference58 articles.

1. Genetics of the complement system;Alper;Adv. Hum. Genet.,1976

2. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs;Altschul;Nucleic Acids Res.,1997

3. Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C3 gene;Amano;Mol. Immunol.,2008

4. Recurrent meningitis in a family with C3 deficiency;Bhide;Indian Pediatr.,2006

5. Molecular basis of hereditary C3 deficiency;Botto;J. Clin. Invest.,1990

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