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Article

Characterization of five associations of F8 missense mutations containing FVIII B domain mutations.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2016

Jourdy Y, Nougier C, Roualdes O, Fretigny M, Durand B, Negrier C, Vinciguerra C

Abstract excerpt

INTRODUCTION: Haemophilia A (HA) is a bleeding disorder due to an absence or a reduced activity of coagulation factor VIII (FVIII) caused by mutations in F8 gene. Missense mutations represent approximately 45% of the reported molecular defects in HA. However, only few missense mutations in FVIII B domain have been described. AIM: The aim of this study was to characterize five genetic variations (three novels and...

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Identifiers

PMID: 26915717
DOI: 10.1111/hae.12906

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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