F8(373-640) variant [plasma membrane]

Stable Identifier
R-HSA-9668369
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Synonyms
FVIIIa A2 polypeptide variant, F8(373-640) A2 domain variant, FVIII(373-640) variant
Locations in the PathwayBrowser
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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

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

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

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

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

Br. J. Haematol. 1999
Participants
members
Participates
as a component of
Disease
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
Cross References
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