Lack of F8 mRNA

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dc.contributor.author El Maarri, Osman
dc.contributor.author Singer, Heike
dc.contributor.author Klein, Claudia
dc.contributor.author Watzka, Mathias
dc.contributor.author Herbiniaux, Brackmann
dc.contributor.author Schroder, Jorg
dc.contributor.author Graw, Jochen
dc.contributor.author Muller, Clemens
dc.contributor.author Schramm, Wolfgang
dc.contributor.author Schwaab, Rainer
dc.contributor.author Haaf, Thomas
dc.contributor.author Hanfland, Peter
dc.contributor.author Oldenburg, Johannes
dc.date.accessioned 2017-09-13T06:44:54Z
dc.date.available 2017-09-13T06:44:54Z
dc.date.copyright 2006 en_US
dc.date.issued 2017-09-13
dc.identifier.issn 1528-0020 en_US
dc.identifier.uri http://hdl.handle.net/10725/6173
dc.description.abstract Hemophilia A (HA) is caused by partial or total deficiency of F8 protein activity. In a small group, about 1.8% of patients with HA, no mutation is found in the F8 gene. Among this group, we report here on one patient with severe HA in whom no mRNA of the F8 gene was detected. Using 2 common polymorphisms in F8 exon 14, we were able to show that the same allele shared by the patient, his mother, and his sister was not detected by reverse transcription–polymerase chain reaction (RT-PCR) from total blood mRNA. Skewed X-chromosome inactivation in both the mother and the sister was excluded by studying the methylation profile of the androgen receptor gene (HUMARA locus). These findings strongly suggest that the cause of HA in this patient is either absence or rapid degradation of the F8 mRNA, which points to a novel mechanism leading to HA. en_US
dc.language.iso en en_US
dc.title Lack of F8 mRNA en_US
dc.type Article en_US
dc.description.version Published en_US
dc.title.subtitle a novel mechanism leading to hemophilia A 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 Blood en_US
dc.journal.volume 107 en_US
dc.journal.issue 7 en_US
dc.article.pages 2759-2765 en_US
dc.identifier.doi https://doi.org/10.1182/blood-2005-09-3702 en_US
dc.identifier.ctation El-Maarri, O., Singer, H., Klein, C., Watzka, M., Herbiniaux, U., Brackmann, H. H., ... & Schwaab, R. (2006). Lack of F8 mRNA: a novel mechanism leading to hemophilia A. Blood, 107(7), 2759-2765. 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 http://www.bloodjournal.org/content/107/7/2759.short en_US
dc.author.affiliation Lebanese American University en_US

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