The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML). Myeloproliferative disorders (MPDs), either transient or more fulminant forms, can also occur in infants wit...

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Autori principali: Kratz, Christian P., Niemeyer, Charlotte M., Castleberry, Robert P., Cetin, Mualla, Bergsträsser, Eva, Emanuel, Peter D., Hasle, Henrik, Kardos, Gabriela, Klein, Cornelia, Kojima, Seiji, Stary, Jan, Trebo, Monika, Zecca, Marco, Gelb, Bruce D., Tartaglia, Marco, Loh, Mignon L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2005
Soggetti:
Neoplasia
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895140/
https://ncbi.nlm.nih.gov/pubmed/15928039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-02-0531
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