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Article

[Molecular pathogenesis of haemophilia A].

Casopis lekaru ceskych - 1 Jan 2005

Habart D

Abstract excerpt

Haemophilia A is one of the most common inherited bleeding disorders. Bleeding phenotype is caused by mutations within factor VIII gene, which result in deficient activity of the factor VIII in plasma. Various genetic defects have been described to affect factor VIII transcription, translation or its amino acid composition. Utilisation of 3D-model of the factor VIII helped to identify amino acid substitutions...

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PMID: 16335697

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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