New insight into the molecular basis of hemophilia A

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dc.contributor.author El Maarri, Osman
dc.contributor.author Oldenburg, Johannes
dc.date.accessioned 2017-09-15T09:47:05Z
dc.date.available 2017-09-15T09:47:05Z
dc.date.copyright 2006 en_US
dc.identifier.issn 1865-3774 en_US
dc.identifier.uri http://hdl.handle.net/10725/6203
dc.description.abstract Since publication of the sequence of the factor VIII gene (F8) in 1984, a large number of mutations that cause hemophilia A (HA) have been identified.With the technical advances associated with mutation screenings, it is now possible to identify a putative F8 sequence alteration in the great majority of HA patients. The mutation spectrum includes 2 inversion hot spots (intron 1 and intron 22 inversions) mediated by intrachromosomal recombination between 2 copies of long inverted repeats, one of which lies within the F8 gene whereas the other is extragenic. Point mutations are distributed over all of the exons, and deletions or insertions of different sizes and mutations affecting splice sites account for the rest of the known mutations. In a small number of cases, however, we are unable to find any disease-determining DNA changes in the coding regions of the F8 gene. This fact points to possibilities of unknown gene rearrangements that disrupt the F8 gene or mutations in other genes that play a role in the processing/secretion of the factor VIII protein. Moreover, the proof of an absence of F8 messenger RNA (mRNA) in one patient points to either a defect in the expression of F8 mRNA or its rapid degradation, which may represent a novel mechanism leading to HA. en_US
dc.language.iso en en_US
dc.title New insight into the molecular basis of hemophilia A 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 International Journal of Hematology en_US
dc.journal.volume 83 en_US
dc.article.pages 96-102 en_US
dc.keywords Factor VIII en_US
dc.keywords Hemophilia A en_US
dc.keywords Mutations en_US
dc.keywords mRNA en_US
dc.keywords Expression en_US
dc.identifier.doi http://dx.doi.org/10.1532/IJH97.06012 en_US
dc.identifier.ctation Oldenburg, J., & El-Maarri, O. (2006). New insight into the molecular basis of hemophilia A. International journal of hematology, 83(2), 96-102. 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 https://link.springer.com/content/pdf/10.1532%2FIJH97.06012.pdf en_US
dc.author.affiliation Lebanese American University en_US

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