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• W2054752409 abstract "Haemophilia A is an X-linked bleeding disorder caused by a deficiency of factor VIII. As an essential cofactor in the intrinsic clotting cascade, factor VIII is activated and subsequently inactivated by proteolytic cleavages involving factor IIa (thrombin), factor Xa and activated protein C (APC). Investigation of the thrombin cleavage sites at amino acids 372 and 1689 of the factor VIII protein by oligonucleotide screening, DNA amplification and direct sequencing, enabled us to identify two missense mutations in 441 unrelated haemophiliacs. A C-to-T transition, which leads to the substitution of cysteine for arginine at position 1689, was found in a severely affected patient and a previously undescribed G-to-A substitution, causing replacement of arginine1689 with histidine, was found in a patient with mild disease." @default.
• W2054752409 created "2016-06-24" @default.
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• W2054752409 creator A5089633744 @default.
• W2054752409 date "1991-02-01" @default.
• W2054752409 modified "2023-10-14" @default.
• W2054752409 title "Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain" @default.
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• W2054752409 doi "https://doi.org/10.1016/0049-3848(91)90098-h" @default.
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• W2054752409 hasPublicationYear "1991" @default.
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