Factor VIII A3 domain substitution N1922S results in hemophilia A due to domain-specific misfolding and hyposecretion of functional protein

A point mutation leading to amino acid substitution N1922S in the A3 domain of factor VIII (fVIII) results in moderate to severe hemophilia A. A heterologous expression system comparing N1922S-fVIII and wild-type fVIII (wt-fVIII) demonstrated similar specific coagulant activities but poor secretion...

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Bibliografiske detaljer
Main Authors: Summers, Ryan J., Meeks, Shannon L., Healey, John F., Brown, Harrison C., Parker, Ernest T., Kempton, Christine L., Doering, Christopher B., Lollar, Pete
Format: Artigo
Sprog:Inglês
Udgivet: American Society of Hematology 2011
Fag:
Thrombosis and Hemostasis
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3062317/
https://ncbi.nlm.nih.gov/pubmed/21217077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2010-09-307074
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