Sentence examples for main mutations from inspiring English sources

In this review, we address the biological features of the main mutations associated with CN-AML and the impact of next generation sequencing studies in expanding our knowledge of the molecular landscape of CN-AML.

Despite the differences in the methods, the main mutations in GBM (EGFR, CDKN2A, CDKN2C, PDGFRA, PTEN, CDK4, MDM2 and MDM4) were correctly recovered by the entropy method and the TCGA Research Network analysis, which used a combination of methods that included GISTIC and GTS.

The main mutations found were in-frame deletions in exon 19 and the missense mutation L858R in exon 21.

A list of the main mutations that affect amino acids in human NAT1 and NAT2 are shown in Table 1.

It is a multigene mutant of HSV-1 that contains three main mutations (γ34.5, ICP6, and α47), which results in its selective cytotoxicity to tumor cells.

Three main mutations in this gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors, a disease that manifests uveitis as one of its clinical features.

In the pro gene the main mutation found was L90M (26%) followed by dual substitution in L90M and V82A (6%).

The main mutation is V599E, which introduces a negative charge into the activation loop.

We conclude that although none of the cell cycle regulators analysed here can be singled out as a main mutation target for melanoma tumorigenesis, G1/S checkpoint defects are one of the significant factors in the development of melanoma tumors.

Small indels are responsible for some PH1 cases due to AGT synthesis defects, most notably c.33dupC, the main mutation of the major haplotype, with the predicted consequence of early stop codon and nonsense mediated mRNA decay.

It has also been noted that exons 45 55 cover the main mutation "hotspot" of the DMD gene so that, theoretically, up to 40 45% of DMD patients could be treated if it was possible to skip the entire exon 45 55 region [ 58].