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Article

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Oct 2004

Rossetti Liliana C, Candela Miguel, Bianco Raúl Pérez, de Tezanos Pinto Miguel, Western Andrea, Goodeve Anne, Larripa Irene B, De Brasi Carlos D

Abstract excerpt

Besides intron 22 factor VIII gene inversion (Inv22), intron 1 inversion (Inv1) has recently been reported as a further recurrent mutation that causes approximately 5% of severe haemophilia A (HA) cases. We analysed the presence of the Inv1 in a group of 64 severe HA-affected families from Argentina, and found only one positive case. This Inv1 patient has not developed a factor VIII inhibitor, and the screening...

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PMID: 15389123
DOI: 10.1097/00001721-200410000-00006

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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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