F8(373-640) variant [plasma membrane]

Stable Identifier
Set [DefinedSet]
Homo sapiens
FVIIIa A2 polypeptide variant, F8(373-640) A2 domain variant, FVIII(373-640) variant
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
12091341 Mutations associated with hemophilia A in the 558-565 loop of the factor VIIIa A2 subunit alter the catalytic activity of the factor Xase complex

Zhou, Q, Fay, PJ, Freas, J, Jenkins, PV, Schmidt, KM

Blood 2002
9427707 The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII

Amano, K, Kaufman, RJ, Kazazian, HH, Pemberton, S, Kemball-Cook, G, Sarkar, R

Blood 1998
10468875 Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function

Mazurier, C, Jorieux, S, van Mourik, JA, Van Stempvoort, G, Celie, PH, Mertens, K

Br. J. Haematol. 1999
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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