Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree

Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers. At present, the somatic events triggering leukemic transformation appear heterogeneous and profiles of leukemia initiation across family members are poor...

詳細記述

保存先:
書誌詳細
出版年:Eur J Hum Genet
主要な著者: Tawana, Kiran, Wang, Jun, Király, Péter A, Kállay, Krisztián, Benyó, Gábor, Zombori, Marianna, Csomor, Judit, Al Seraihi, Ahad, Rio-Machin, Ana, Matolcsy, András, Chelala, Claude, Cavenagh, Jamie, Fitzgibbon, Jude, Bödör, Csaba
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2017
主題:
Short Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5567149/
https://ncbi.nlm.nih.gov/pubmed/28513614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.80
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