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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Main Authors: 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2013
Ábhair:
Report
Rochtain Ar Líne: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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