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By Chandra Shekhar

On the Trail of a Point Mutation

The discovery of a blood-cancer gene raises tantalizing questions


William Vainchenker had long suspected a rogue JAK2 tyrosine kinase to be the cause of the myeloproliferative disorder, polycythemia vera. But with very limited resources at his disposal at the Gustave Roussy Institute in Paris, he could not afford large-scale sequencing efforts. Working with only three patients, his team concentrated on tracking down JAK2 gene mutations. "We were lucky," says Vainchenker. "We found the same mutation in two of them."



 

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