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A CpG Mutational Hotspot in a ONECUT Binding Site Accounts for the Prevalent Variant of Hemophilia B Leyden

✍ Scribed by Funnell, Alister P.W.; Wilson, Michael D.; Ballester, Benoit; Mak, Ka Sin; Burdach, Jon; Magan, Natisha; Pearson, Richard C.M.; Lemaigre, Frederic P.; Stowell, Kathryn M.; Odom, Duncan T.; Flicek, Paul; Crossley, Merlin

Book ID: 121992578
Publisher: American Society of Human Genetics
Year: 2013
Tongue: English
Weight: 737 KB
Volume: 92
Category: Article
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2013.02.003

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CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series

✍ Shi-Han Chen; Min Zhang; Everett W. Lovrien; C. Ronald Scott; Arthur R. Thompson 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 736 KB

Hemophilia B is due to multiple molecular defects in the factor IX gene. Over 80% of mutations are single base substitutions. By amplification and direct sequencing, 51 single base substitutions were found in the transcribed sequence of the factor IX genes of patients from 50 distinct families with