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

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

Br. J. Haematol. 1990
8052958 Factor VIII S373L: mutation at P1' site confers thrombin cleavage resistance, causing mild haemophilia A

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

Thromb. Haemost. 1994
2109644 Purification and characterization of factor VIII 372-Cys: a hypofunctional cofactor from a patient with moderately severe hemophilia A

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

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

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

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