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Lookup NU author(s): Professor David KavanaghORCiD, Dr Anna Richards, Rachel Burgess, Professor Judith Goodship, Professor Tim Goodship
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Atypical haemolytic uraemic syndrome (aHUS) is a disorder of complement dysregulation. Because complement factor B (fB) carries the catalytic site of the alternative pathway convertase we examined it as both a potential candidate gene and modifier in the pathogenesis of aHUS. No factor B gene (BF) mutations were found in 20 patients with aHUS. There was no statistical difference between controls and aHUS patients in either BF allele or haplotype frequency. In conclusion, in this small series of aHUS patients we found no evidence that fB has a major role in the pathogenesis of aHUS. © 2005 Elsevier Ltd. All rights reserved.
Author(s): Kavanagh D, Kemp EJ, Richards A, Burgess RM, Mayland E, Goodship JA, Goodship THJ
Publication type: Article
Publication status: Published
Journal: Molecular Immunology
Year: 2006
Volume: 43
Issue: 7
Pages: 856-859
ISSN (print): 0161-5890
ISSN (electronic): 1872-9142
Publisher: Pergamon
URL: http://dx.doi.org/10.1016/j.molimm.2005.06.041
DOI: 10.1016/j.molimm.2005.06.041
PubMed id: 16061287
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