Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Rational use of eculizumab in secondary atypical hemolytic uremic syndrome.
Cordero L et al.
Frontiers in Immunology, 2023
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
33116287 (PubMed )
Supplement: 41586_2020_2859_MOESM3_ESM.xlsx › Supp_T19
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C et al.
Frontiers in Immunology, 2019
31440263 (PubMed )
Supplement: Table_1.DOCX
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
C5 complement deficiency in a Saudi family, molecular characterization of mutation and literature review.
Arnaout R et al.
Journal of Clinical Immunology, 2013
[Hereditary deficiency of complement in humans and animals].
Pozsgi N
Microbiologia, Parazitologia, Epidemiologia, 0
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