Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III
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Publisher
United States: American Society for Clinical Investigation
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Language
English
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Publisher
United States: American Society for Clinical Investigation
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Contents
Hereditary angioedema type III (HAEIII) is a rare inherited swelling disorder that is associated with point mutations in the gene encoding the plasma protease factor XII (FXII). Here, we demonstrate that HAEIII-associated mutant FXII, derived either from HAEIII patients or recombinantly produced, is defective in mucin-type Thr309-linked glycosylati...
Alternative Titles
Full title
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III
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Record Identifier
TN_cdi_swepub_primary_oai_swepub_ki_se_511899
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_swepub_ki_se_511899
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI77139
