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- Title
Germline mutations of the CBL gene define a new genetic syndrome with predisposition to juvenile myelomonocytic leukaemia.
- Authors
Pérez, B; Mechinaud, F; Galambrun, C; Ben Romdhane, N; Isidor, B; Philip, N; Derain-Court, J; Cassinat, B; Lachenaud, J; Kaltenbach, S; Salmon, A; Désirée, C; Pereira, S; Menot, M L; Royer, N; Fenneteau, O; Baruchel, A; Chomienne, C; Verloes, A; Cavé, H
- Abstract
CBL missense mutations have recently been associated with juvenile myelomonocytic leukaemia (JMML), an aggressive myeloproliferative and myelodysplastic neoplasm of early childhood characterised by excessive macrophage/monocyte proliferation. CBL, an E3 ubiquitin ligase and a multi-adaptor protein, controls proliferative signalling networks by downregulating the growth factor receptor signalling cascades in various cell types.
- Publication
Journal of medical genetics, 2010, Vol 47, Issue 10, p686
- ISSN
1468-6244
- Publication type
Journal Article
- DOI
10.1136/jmg.2010.076836