Article
A CpG mutational hotspot in a ONECUT binding site accounts for the prevalent variant of hemophilia B Leyden.
American journal of human genetics - 7 Mar 2013
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
Abstract excerpt
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 -6 relative to the transcription start site, designated +1) account for the majority of Leyden cases and have been...
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