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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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2013
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Accés en línia: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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