F8 heavy chain thrombin cleavage site variants [extracellular region]

Stable Identifier
Set [CandidateSet]
Homo sapiens
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
8052958 Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A

O'Brien, DP, Tuddenham, EG, Pemberton, S, Acquila, M, Mori, PG, Johnson, DJ

Thromb. Haemost. 1994
1973901 CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site

Tuddenham, EG, Boon, M, McVey, JH, Pattinson, JK, Ajani, A

Br. J. Haematol. 1990
2109644 Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A

Tuddenham, EG, O'Brien, DP, Pattinson, JK

Blood 1990
15705787 Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site

Zhou, Q, Fay, PJ, Wakabayashi, H, Nogami, K

Blood 2005
Name Identifier Synonyms
factor VIII deficiency DOID:12134 Congenital factor VIII disorder, Subhemophilia, Hemophilia A
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