F8 genetic analysis strategies when standard approaches fail

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dc.contributor.author El Maarri, O.
dc.contributor.author Pezeshkpoor, B.
dc.contributor.author Pavlova, A.
dc.contributor.author Oldenburg, J.
dc.date.accessioned 2017-09-15T10:54:58Z
dc.date.available 2017-09-15T10:54:58Z
dc.date.copyright 2014 en_US
dc.identifier.issn 0720-9355 en_US
dc.identifier.uri http://hdl.handle.net/10725/6204
dc.description.abstract Haemophilia A is a common X-linked recessive disorder caused by mutations in F8 leading to deficiency or dysfunction of coagulant factor VIII (FVIII). Despite tremendous improvements in mutation screening methods, in a small group of patients with FVIII deficiency suffering from haemophilia A, no DNA change can be found. In these patients, analysis reveals no causal mutations even after sequencing the whole coding region of F8 including the flanking splice sites, as well as the promoter and the 3’ untranslated region (UTR). After excluding the mutations mimicking the haemophilia A phenotype in interacting partners of the FVIII protein affecting the half life and transport of the protein, mutations or rearrangements in non-coding regions of F8 have to be considered responsible for the haemophilia A phenotype. In this review, we present the experiences with molecular diagnosis of such cases and approaches to be applied for mutation negative patients. en_US
dc.language.iso en en_US
dc.title F8 genetic analysis strategies when standard approaches fail en_US
dc.type Article en_US
dc.description.version Published en_US
dc.author.school SAS en_US
dc.author.idnumber 201508713 en_US
dc.author.department Natural Sciences en_US
dc.description.embargo N/A en_US
dc.relation.journal Hämostaseologie en_US
dc.journal.volume 34 en_US
dc.journal.issue 2 en_US
dc.article.pages 167-173 en_US
dc.identifier.doi https://doi.org/10.5482/HAMO-13-08-0043 en_US
dc.identifier.ctation Pezeshkpoor, B., Pavlova, A., Oldenburg, J., & El-Maarri, O. (2014). F8 genetic analysis strategies when standard approaches fail. Hamostaseologie, 34(2), 167-173. en_US
dc.author.email osman.elmaarri@lau.edu.lb en_US
dc.identifier.tou http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php en_US
dc.identifier.url file:///C:/Users/rola.habre/Downloads/haemo_2014-34-2_20574.pdf en_US
dc.author.affiliation Lebanese American University en_US

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