F8 light chain thrombin cleavage site variants [extracellular region]

Stable Identifier
Set [DefinedSet]
Homo sapiens
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
2499363 Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A

O'Brien, DP, Tuddenham, EG

Blood 1989
2104766 Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A

Arai, M, Higuchi, M, Antonarakis, SE, Kazazian, HH, Phillips, JA, Janco, RL, Hoyer, LW

Blood 1990
1851341 Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain

Schwaab, R, Ludwig, M, Kochhan, L, Oldenburg, J, McVey, JH, Egli, H, Brackmann, HH, Olek, K

Thromb. Res. 1991
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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