Analysis of mRNA in hemophilia A patients with undetectable mutations reveals normal splicing in the factor VIII gene

Background: haemophilia A (HA) is characterized by partial or total deficiency of factor VIII (FVIII) protein activity. It is caused by a broad spectrum of mutations in the FVIII gene. Despite tremendous improvements in mutation screening methods, in about 2% of HA patients no DNA change could be fo...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلف الرئيسي: El-Maarri, O. (author)
مؤلفون آخرون: Herbiniaux, U. (author), Graw, J. (author), Schroder, J. (author), Terzic, A. (author), Watzka, M. (author), Brackmann, H.H. (author), Schramm, W. (author), Hanfland, P. (author), Schwaab, R. (author), Muller, C.R. (author), Oldenburg, J. (author)
التنسيق: article
منشور في: 2005
الوصول للمادة أونلاين:http://hdl.handle.net/10725/6657
http://dx.doi.org/10.1111/j.1538-7836.2005.01140.x
http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php
http://ku7rj9xt8c.scholar.serialssolutions.com/?sid=google&auinit=O&aulast=El-Maarri&atitle=Detailed+RNA+analysis+in+haemophilia+A+patients+with+previously+undetectable+mutations&title=Journal+of+thrombosis+and+haemostasis&volume=3&date=2005&spage=332&issn=1538-7933
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