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Article

Significance of F8 missense mutations with respect to inhibitor formation.

Thrombosis and haemostasis - 1 Mar 2013

Schwaab Rainer, Pavlova Anna, Albert Thilo, Caspers Michael, Oldenburg Johannes

Abstract excerpt

We have identified 1,135 haemophilia A patients with missense mutations associated with mild (46%), moderate (22%), severe (16%), and mixed haemophilia phenotypes (11%). Altogether, we detected 374 different missense mutations of which 195 are not listed in the HAMSTeRS database. While missense mutations are strongly underrepresented within the factor VIII (FVIII) B-domain, they are evenly distributed throughout...

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Share to Blood Coagulation Factor Inhibitors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23306409
DOI: 10.1160/TH12-07-0521

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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