Associated Papers
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection.
Day WG et al.
Journal of Clinical Immunology, 2024
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.
Franco-Jarava C et al.
Clinical and Experimental Immunology, 2017
Novel Mutations Causing C5 Deficiency in Three North-African Families.
Colobran R et al.
Journal of Clinical Immunology, 2016
A complement C5 gene mutation, c.754G>A:p.A252T, is common in the Western Cape, South Africa and found to be homozygous in seven percent of Black African meningococcal disease cases.
Owen EP et al.
Molecular Immunology, 2015
[Hereditary deficiency of complement in humans and animals].
Pozsgi N
Microbiologia, Parazitologia, Epidemiologia, 0
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