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Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 May 2012

Ravanbod S, Rassoulzadegan M, Rastegar-Lari G, Jazebi M, Enayat S, Ala F

Abstract excerpt

In Haemophilia A (HA), the deficiency in coagulation factor VIII is caused by mutations in the F8 gene. In the past, HA carrier detection in Iran used to be carried out by tracking polymorphic DNA markers - a technical strategy with poor efficacy and accuracy. For some 10 years, however, mutations have been identified by direct DNA sequencing at the Iranian Comprehensive Haemophilia Care Centre (ICHCC), resulting...

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Identifiers

PMID: 22117735
DOI: 10.1111/j.1365-2516.2011.02708.x

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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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