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First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations

<p>Abstract</p> <p>Introduction</p> <p>Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the <it>F8</it> gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of th...

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Autori principali: Elmahmoudi Hejer, Khodjet-el-khil Houssein, Wigren Edvard, Jlizi Asma, Zahra Kaouther, Pellechia Dorothé, Vinciguerra Christine, Meddeb Balkis, Elggaaied Amel Ben, Gouider Emna
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMC 2012-08-01
Serie:Diagnostic Pathology
Soggetti:
Hemophilia A
Mutations
Intron 22 inversion
Intron 1 inversion
Inhibitors
Molecular analysis
Tunisia
Accesso online:http://www.diagnosticpathology.org/content/7/1/93
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