Article

Hemophilic factor VIII C1- and C2-domain missense mutations and their modeling to the 1.5-angstrom human C2-domain crystal structure

2000-08-01

Abstract excerpt

Abstract Factor VIII C domains contain key binding sites for von Willebrand factor (vWF) and phospholipid membranes. Hemophilic patients were screened for factor VIII C-domain mutations to provide a well-characterized series. Mutated residues were localized to the high-resolution C2 structure and to a homology model of C1. Of 30 families found with mutations in the C domains, there were 14 missense changes, and 9...

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Literature Corpus work: 4384e9f1-2e53-5e11-88d3-339b325be3ae
DOI: 10.1182/blood.v96.3.979

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