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Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

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.

Publication metadata

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

Year: 2001

Volume: 68

Issue: 2

Pages: 485-490

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/318203


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