A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
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Publisher
Germany: Springer
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Language
English
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Publisher
Germany: Springer
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Contents
A genetic predisposition involving complement regulatory genes has become evident in some patients with atypical HUS. In this paper, a patient with a heterozygous missense mutation in factor I (IF) is described. Although the serum level of IF was normal, a mild functional defect in the alternative pathway of complement could be demonstrated in the...
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Full title
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
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TN_cdi_proquest_miscellaneous_68979273
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68979273
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ISSN
0931-041X
E-ISSN
1432-198X
DOI
10.1007/s00467-006-0320-2
