CareLit · DOI-Nachweis · Zeitschrift für Orthopädie und Unfallchirurgie
Methylation analysis of the promoter region and intron 1 of the factor VIII gene in haemophilia A patients
DOI 10.1055/s-0037-1619797
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Autor:innenHansmann, T.; Haaf, T.; Oldenburg, J.; Müller, C.-R.; Rost, S.; Zimmermann, M.-A.
ZeitschriftZeitschrift für Orthopädie und Unfallchirurgie
AusgabeS 01/2013
Jahrgang / SeitenJg. 33 · S. S46-S49
Kernaussage aus der Literatur
Abstract-Vorschau
SummaryHaemophilia A is the most common X-linked inherited coagulation disorder caused by a deficiency of the factor VIII protein (FVIII). A plethora of different mutations in the factor VIII gene (F8) have been identified as causative for this bleeding disease including a few promoter mutations. However, in approximately 2–5% of all haemophilic patients, the causal mutation still remains unknown. To our knowledge,…
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Zitierempfehlung
Hansmann, T.; Haaf, T.; Oldenburg, J.; Müller, C.-R.; Rost, S.; Zimmermann, M.-A (2013) Methylation analysis of the promoter region and intron 1 of the factor VIII gene in haemophilia A patients. Zeitschrift für Orthopädie und Unfallchirurgie, 33 (S 01), S46-S49. https://doi.org/10.1055/s-0037-1619797
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