Structural and Functional Characterization of Factor H Mutations Associated with Atypical Hemolytic Uremic Syndrome
- 1 December 2002
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 71 (6) , 1285-1295
- https://doi.org/10.1086/344515
Abstract
No abstract availableKeywords
This publication has 34 references indexed in Scilit:
- von Willebrand factor cleaving protease (ADAMTS13) is deficient in recurrent and familial thrombotic thrombocytopenic purpura and hemolytic uremic syndromeBlood, 2002
- Uncontrolled C3 activation causes membranoproliferative glomerulonephritis in mice deficient in complement factor HNature Genetics, 2002
- Molecular modelling of the C-terminal domains of factor H of human complement: a correlation between haemolytic uraemic syndrome and a predicted heparin binding siteJournal of Molecular Biology, 2002
- Hemolytic uremic syndrome: how do factor H mutants mediate endothelial damage?Trends in Immunology, 2001
- Factor H Mutations in Hemolytic Uremic Syndrome Cluster in Exons 18–20, a Domain Important for Host Cell RecognitionAmerican Journal of Human Genetics, 2001
- Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic SyndromeAmerican Journal of Human Genetics, 2001
- Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic SyndromeAmerican Journal of Human Genetics, 2000
- Human complement C3b inactivator: isolation, characterization, and demonstration of an absolute requirement for the serum protein beta1H for cleavage of C3b and C4b in solution.The Journal of Experimental Medicine, 1977
- C1 inactivator protein complexed with albumin in plasma from a patient with angioneurotic edemaEuropean Journal of Immunology, 1971
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970