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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
Assuntos:
Report
Acesso em linha: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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