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

Hemophilia B, or the “royal disease,” arises from mutations in coagulation factor IX (F9). Mutations within the F9 promoter are associated with a remarkable hemophilia B subtype, termed hemophilia B Leyden, in which symptoms ameliorate after puberty. Mutations at the −5/−6 site (nucleotides −5 and −...

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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3591849/
https://ncbi.nlm.nih.gov/pubmed/23472758
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.02.003
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