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

INTRODUCTION: Hemophilia A is an X linked recessive hemorrhagic disorder caused by mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of coagulation factor VIII (FVIII). Molecular diagnosis of hemophilia A is challenging because of the high number of different causati...

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Hauptverfasser: Elmahmoudi, Hejer, Khodjet-el-khil, Houssein, Wigren, Edvard, Jlizi, Asma, Zahra, Kaouther, Pellechia, Dorothé, Vinciguerra, Christine, Meddeb, Balkis, Elggaaied, Amel Ben Ammar, Gouider, Emna
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2012
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3487796/
https://ncbi.nlm.nih.gov/pubmed/22883072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1746-1596-7-93
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