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Article

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

Thrombosis research - 1 Feb 1991

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

Abstract excerpt

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...

Topics

Base Sequence
Blotting, Southern
DNA
DNA Mutational Analysis
DNA Restriction Enzymes
Factor VIII
Genetic Markers
Hemophilia A
Humans
Molecular Sequence Data
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotide Probes

Restriction Mapping

Source

Identifiers

PMID: 1851341
DOI: 10.1016/0049-3848(91)90098-h

Genes

APC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1851341-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain.PMID 1851341Read ↗

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