Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Aiko Sato-Otsubo
PROVIDER: E-GEOD-31171 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Nature 20110911 7367
Myelodysplastic syndromes and related disorders (myelodysplasia) are a heterogeneous group of myeloid neoplasms showing deregulated blood cell production with evidence of myeloid dysplasia and a predisposition to acute myeloid leukaemia, whose pathogenesis is only incompletely understood. Here we report whole-exome sequencing of 29 myelodysplasia specimens, which unexpectedly revealed novel pathway mutations involving multiple components of the RNA splicing machinery, including U2AF35, ZRSR2, SR ...[more]