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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 and Olek, K (1991) Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. Thromb Res, 61 (3). pp. 225-234.

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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.

Item Type: Article
Authors :
NameEmailORCID
Schwaab, RUNSPECIFIEDUNSPECIFIED
Ludwig, MUNSPECIFIEDUNSPECIFIED
Kochhan, LUNSPECIFIEDUNSPECIFIED
Oldenburg, JUNSPECIFIEDUNSPECIFIED
McVey, JHj.mcvey@surrey.ac.ukUNSPECIFIED
Egli, HUNSPECIFIEDUNSPECIFIED
Brackmann, HHUNSPECIFIEDUNSPECIFIED
Olek, KUNSPECIFIEDUNSPECIFIED
Date : 1 February 1991
Uncontrolled Keywords : Base Sequence, Blotting, Southern, DNA, DNA Mutational Analysis, DNA Restriction Enzymes, Factor VIII, Genetic Markers, Hemophilia A, Humans, Molecular Sequence Data, Mutation, Oligonucleotide Probes, Restriction Mapping
Related URLs :
Depositing User : Symplectic Elements
Date Deposited : 17 May 2017 10:16
Last Modified : 17 May 2017 14:48
URI: http://epubs.surrey.ac.uk/id/eprint/827099

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