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Identification and characterization of mutations in the promoter region of the factor VIII gene

✍ Scribed by M. A. ZIMMERMANN; D. MEIER; J. OLDENBURG; C. R. MÜLLER; S. ROST

Book ID: 114754623
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 146 KB
Volume: 10
Category: Article
ISSN: 1538-7933
DOI: 10.1111/j.1538-7836.2011.04574.x

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Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII. Causative mutations are heterogeneous in nature and are distributed throughout the FVIII gene. With the exception of mutations that result in prematurely truncated protein, it has p