Article
Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis.
Proceedings of the National Academy of Sciences of the United States of America - 3 Aug 2004
Moliterno Alison R, Williams Donna M, Gutierrez-Alamillo Laura I, Salvatori Roberto, Ingersoll Roxann G, Spivak Jerry L
Abstract excerpt
The chronic myeloproliferative disorders (MPD) are clonal hematopoietic stem cell disorders of unknown etiology. We have reported defective thrombopoietin receptor (Mpl) protein expression in MPD patients. To determine whether the basis of abnormal Mpl protein expression was due to mutations in the Mpl gene, we sequenced Mpl cDNA from MPD patients. We found a single nucleotide substitution (G1238T) that results...
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