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Keywords: hemophilia
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Articles

Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII

Wei Wei, Saurav Misra, Matthew V. Cannon, Renchi Yang, Xiaofan Zhu, Reid Gilmore, Min Zhu, Bin Zhang
Journal: Biochemical Journal
Biochem J (2018) 475 (5): 873–886.
https://doi.org/10.1042/BCJ20170884
Published: 06 March 2018
... developed a computer program that identified hemophilia A mutations in FVIII that can potentially create ectopic glycosylation sites. We determined that 18 of these ectopic sites indeed become N-glycosylated. These sites span the domains of FVIII and are primarily associated with a severe disease phenotype...
View articletitled, Molecular mechanisms of missense mutations that generate ectopic N-glycosylation sites in coagulation factor VIII
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Includes: Supplementary data