Article
The worldwide distribution of the VHL 598C>T mutation indicates a single founding event.
Blood - 1 Mar 2004
Liu Enli, Percy Melanie J, Amos Christopher I, Guan Yongli, Shete Sanjay, Stockton David W, McMullin Mary F, Polyakova Lydia A, Ang Sonny O, Pastore Yves D, Jedlickova Katerina, Lappin Terry R J, Gordeuk Victor, Prchal Josef T
Abstract excerpt
The first congenital defect of hypoxia-sensing homozygosity for VHL 598C>T mutation was recently identified in Chuvash polycythemia. Subsequently, we found this mutation in 11 unrelated individuals of diverse ethnic backgrounds. To address the question of whether the VHL 598C>T substitution occurred in a single founder or resulted from recurrent mutational events in human evolution, we performed haplotype...
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