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Article

Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution.

Human mutation - 1 Jul 2006

Guillet Benoît, Lambert Thierry, d'Oiron Roseline, Proulle Valérie, Plantier Jean-Luc, Rafowicz Anne, Peynet Jocelyne, Costa Jean-Marc, Bendelac Laurence, Laurian Yves, Lavergne Jean-Maurice

Abstract excerpt

Hemophilia A (HA) is an X-linked hereditary bleeding disorder defined by a qualitative and/or quantitative factor VIII (FVIII) deficiency. The molecular diagnosis of HA is challenging because of the high number of different causative mutations that are distributed throughout the large F8 gene. The putative role of the novel mutations, especially missense mutations, may be difficult to interpret as causing HA. We...

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PMID: 16786531
DOI: 10.1002/humu.20345

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

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