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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

Lookup NU author(s): Dr Matthew Edey, Professor David KavanaghORCiD, Dr Anne Lampe, Professor Judith Goodship, Dr Lisa Turnbull, Dr Nadeem Moghal, Dr Veronique Fremaux-Bacchi, Professor Tim Goodship


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Publication metadata

Author(s): Blom AM, Bergström F, Edey MMJ, Diaz-Torres M, Kavanagh DG, Lampe AK, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship THJ

Publication type: Article

Publication status: Published

Journal: Journal of Immunology

Year: 2008

Volume: 180

Issue: 9

Pages: 6385-6391

ISSN (print): 0022-1767

ISSN (electronic): 1550-6606

Publisher: American Association of Immunologists