In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G→A; Gly144Arg). The man's unaffected mother and sister carry the same mutation. No other VHL genomic or expression alterations were found. In one other patient different genetic conditions were found.
|Number of pages||3|
|Publication status||Published - May 2005|
- Chuvash polycythemia
- VHL gene
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