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Lookup NU author(s): Dr Mark Buddles,
Dr Rosemary Donne,
Professor Judith Goodship,
Professor Tim Goodship
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Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.
Author(s): Goodship JA; Buddles MR; Donne RL; Goodship THJ; Richards A; Kaplan BS; Kirk E; Venning MC; Tielemans CL
Publication type: Article
Publication status: Published
Journal: American Journal of Human Genetics
ISSN (print): 0002-9297
ISSN (electronic): 1537-6605
Publisher: Cell Press
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