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Direct analysis of single-nucleotide polymorphism on double-stranded DNA by pyrosequencing

✍ Scribed by Tommy Nordström; Mostafa Ronaghi; Lena Forsberg; Ulf De Faire; Ralf Morgenstern; Pål Nyrén

Book ID
111717784
Publisher
Portland Press
Year
2000
Tongue
English
Weight
100 KB
Volume
31
Category
Article
ISSN
0885-4513

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Detection of single nucleotide polymorph
Detection of single nucleotide polymorphisms in coagulation factor XI deficient patients by multitemperature single-strand conformation polymorphism analysis
✍ Alexandra Bezak; Radosław Kaczanowski; Astrid Dossenbach-Glaninger; Krzysztof Ku 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 242 KB

Factor XI (FXI) deficiency is a rare inherited disorder which can cause bleeding complications especially in case of hemostatic challenge and/or in tissues with high fibrinolytic activity. A number of causative mutations have been described in FXI deficient individuals which have been detected by va