Article
Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.
Blood - 1 Aug 2003
Percy Melanie J, McMullin Mary Frances, Jowitt Simon N, Potter Michael, Treacy Marilyn, Watson William H, Lappin Terence R J
Abstract excerpt
The Chuvash form of polycythemia is an autosomal recessive disorder common to a large number of families in central Russia. Affected individuals have been reported to be homozygous for an Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. We have screened 78 patients with erythrocytosis and found 8 of Bangladeshi and Pakistani origin to be homozygous for the Arg200Trp mutation and another of English descent...
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