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- W2172934629 endingPage "85" @default.
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- W2172934629 abstract "Summary Three dimensional homology models for the C1 and C2 domains of factor VIII (FVIII) were generated. Each C domain formed a β-sandwich, and C1 was covalently connected to C2 in a head-to-head orientation. Of the >250 missense mutations that cause FVIII deficiency and hemophilia A, 34 are in the C domains. We used the FVIII C1-C2 model to infer the structural basis for the pathologic effects of these mutations. The mutated residues were divided into four categories: 15 conserved buried residues that affect normal packing of the hydrophobic side chains, 2 non-conserved buried residues that affect structure, 11 conserved exposed residues and 6 non-conserved exposed residues. The effects of all 34 missense mutations can be rationalized by predictable disruptions of FVIII structure while at most four mutations (S2069F, T2154I, R2209Q/G/L and E2181D) may affect residues directly involved in intermolecular interactions of FVIII/VIIIa with other coagulation factors or vWF." @default.
- W2172934629 created "2016-06-24" @default.
- W2172934629 creator A5017811280 @default.
- W2172934629 creator A5020111798 @default.
- W2172934629 creator A5020867623 @default.
- W2172934629 creator A5061652432 @default.
- W2172934629 date "2000-01-01" @default.
- W2172934629 modified "2023-09-26" @default.
- W2172934629 title "Structural Basis for Hemophilia A Caused by Mutations in the C Domains of Blood Coagulation Factor VIII" @default.
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- W2172934629 doi "https://doi.org/10.1055/s-0037-1613761" @default.
- W2172934629 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/10669159" @default.
- W2172934629 hasPublicationYear "2000" @default.
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