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Article

Seven novel and four recurrent point mutations in the factor VIII (F8C) gene.

Human mutation - 1 Jan 2002

Bogdanova Nadja, Lemcke Beate, Markoff Arseni, Pollmann Hartmut, Dworniczak Bernd, Eigel Antonin, Horst Jürgen

Abstract excerpt

Haemophilia A is a X-linked bleeding disorder, caused by deficiency in the activity of coagulation factor VIII due to mutations in the corresponding gene. The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. Point mutations and small deletions/insertions are responsible for the majority of cases with moderate to mild...

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PMID: 11754115
DOI: 10.1002/humu.9007

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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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