The mutation spectrum of genes that are frequently mutated in uveal melanoma is compatible with the frequencies observed in previous reports (Martin et al, 2013; Griewank et al, 2013b).
The mutation spectrum of the two tumour groups showed that the most commonly mutated gene following tamoxifen treatment was TP53, with A>G (27%), C>T (20%) and indel (30%) modifications.
The mutation spectrum of the genomes was comparable in their individual chromosomes; however, each mutated genome has unique alterations, which are useful to identify causal mutations for their phenotypic changes.
These characters are believed to increase mutation frequency and mutation spectrum of plants or mammalian cells irradiated by heavy ions.
To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing.
Although the population prevalence and mutation spectrum of β-thalassemia in most areas of south China have been characterized, the mutations have not been elucidated in Guizhou Province.
Plasma viral loads were not reduced, and overall levels of viral mutation were not increased during this short-term study, however, the mutation spectrum of HIV was altered.
In an effort to characterize the mutation spectrum of the MAPK pathway in ovarian cancer, we also sequenced MEK1/2 and identified a novel MEK1 heterozygous missense substitution, p.D67N, in ES-2 which resulted from a nt 199 G→A transition.
Use of specific animal models can explain the in vivo mutation spectrum of cancer genes.
The clinical characteristics and mutation spectrum of the patient cohort are given in Table 1.
We also defined the mutation spectrum of p53 and Ki-ras in 67 unselected cases by direct DNA sequencing.
