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Most importantly, as predicted by our data set, AMLs with NPM1 mutations were characterized by significantly higher expression of HOTAIRM1 compared to NPM1-wild type samples in both AML cohorts (P Welsh's < 10−7 and P Welsh's < 10−15; Supplementary Fig. 3c, d).
Mycobacterium tuberculosis NHEJ proteins Ku and ligase D (LigD) were expressed in E. coli cells in the presence or absence of HR, and the Z-DNA-induced mutations were characterized.
Surprisingly, this analysis revealed that patients carrying B-RAF mutations had an impaired survival, whereas patients with N-RAS mutations were characterized by a favorable prognosis, each in comparison with the wildtype gene status.
The novel CYP11A1 mutations were characterized in vitro and in silico.
Mutations were characterized in the gene CARD15 for a few small families with the Blau syndrome [ 11, 12].
Unknown mutations were characterized by direct sequencing of the PCR-amplified product of α2- and α1-globin genes.
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This stems from the 'long-tail phenomenon' which states that cancer mutations are characterized by a small number of frequently mutated genes and a large number of infrequently mutated genes [ 18, 19].
The GAG binding profile of the mutated full length chemokine (γ-m1, which includes these 9 mutations), was characterized.
In particular, MCP mutations are characterized by a high rate of incomplete penetrance, appearing to be a predisposing factor for TMA development, rather than causative of TMA.
The time dynamics of the detected mutations was characterized by isolating 24 colonies every 200 generations over the course of the experiment and amplifying a ~700-bp PCR product containing the putative single nucleotide polymorphism (SNP) from each isolate.
The interstitial lung disease associated with the TERT mutations is characterized uniformly by dyspnea and a decreased diffusion capacity.
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