Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1

Children with neurofibromatosis type 1 (NF-1), being constitutionally deficient for one allele of the NF1 gene, are at greatly increased risk of juvenile myelomonocytic leukemia (JMML). NF1 is a negative regulator of RAS pathway activity, which has a central role in JMML. To further clarify the role...

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Autori principali: Steinemann, Doris, Arning, Larissa, Praulich, Inka, Stuhrmann, Manfred, Hasle, Henrik, Starý, Jan, Schlegelberger, Brigitte, Niemeyer, Charlotte M., Flotho, Christian
Natura: Artigo
Lingua:Inglês
Pubblicazione: Ferrata Storti Foundation 2010
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Brief Reports
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2817036/
https://ncbi.nlm.nih.gov/pubmed/20015894
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.010355
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