A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity-Reference-Cited by-同舟云学术

A Novel Non-Synonymous Polymorphism (p.Arg240His) in C4b-Binding Protein Is Associated with Atypical Hemolytic Uremic Syndrome and Leads to Impaired Alternative Pathway Cofactor Activity

Published:2008-04-18 Issue:9 Volume:180 Page:6385-6391
ISSN:0022-1767
Container-title:The Journal of Immunology
language:en
Short-container-title:J Immunol

Author:

Blom Anna M.,Bergström Frida,Edey Matthew,Diaz-Torres Martha,Kavanagh David,Lampe Anne,Goodship Judith A.,Strain Lisa,Moghal Nadeem,McHugh Mary,Inward Carol,Tomson Charles,Frémeaux-Bacchi Véronique,Villoutreix Bruno O.,Goodship Timothy H. J.

Publisher

The American Association of Immunologists

Subject

Immunology,Immunology and Allergy

Reference42 articles.

1. Genetics of HUS: the impact of MCP, CFH, and IF mutations on clinical presentation, response to treatment, and outcome

2. Genetic studies into inherited and sporadic hemolytic uremic syndrome

3. Clustering of Missense Mutations in the C-Terminal Region of Factor H in Atypical Hemolytic Uremic Syndrome

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