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Updated: Jun 23, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

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Published on: September 20, 2016

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在MECOM中发生的一种新型突变在体外影响MPL调节,并导致血小板缩和骨髓衰竭

Daniele Ammeti1, Antonio Marzollo2, Maria Gabelli2,3

  • 1Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.

British journal of haematology
|August 23, 2023
PubMed
概括

与MECOM相关的综合征是一种罕见的遗传疾病,涉及骨髓衰竭和发育问题. 一种新的MECOM基因变异损害了EVI1的功能,这可能解释了这种综合征.

关键词:
在 EVI1 中.麦科姆是一个国家.作为MECOM-AS,我们已经做到了.在MPL中,MPL是MPL.骨髓功能衰竭 骨髓功能衰竭遗传性血小板缺血症是遗传的

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