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Article

Identification of an ancient haemophilia A splice site mutation.

Thrombosis research - 1 Sept 2012

Reitter-Pfoertner Sylvia, von Haeseler Arndt, Horvath Birgit, Sunder-Plassmann Raute, Tiedje Vera, Pabinger Ingrid, Mannhalter Christine

Abstract excerpt

INTRODUCTION: To date, numerous mutations resulting in haemophilia A are known and recorded at HAMSTeRS. We identified a new splice site mutation in intron 6 of the F8 gene (T to G transition at position -14; c.788-14T>G) in seven not knowingly related patients, who all suffer from mild haemophil...

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Identifiers

PMID: 22401796
DOI: 10.1016/j.thromres.2012.02.008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22401796-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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