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Mutations arise from changes to the DNA of a gene.
It has been claimed that ∼60% of such Mendelian disease mutations arise from amino acid substitutions in their respective genes (see [16] for review).
Phase 1 mutations arise from DNA replication across the uracil residue or the abasic site, generated by the uracil-DNA glycosylase, yielding transitions or transversions at G C pairs.
The full mutations arise from premutations only and the premutations likely arise from large normal alleles.
Although spontaneous mutations arise from various pathways during normal metabolism, they are fixed through the DNA replication process.
The matter remains unsolved, but there is clear evidence for a leading role of DNA replication on base-substitution mutations: despite its proof-reading function, most mutations arise from DNA polymerase errors (Drake et al. 1998; Lynch et al. 2006).
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Phylogenetic analysis established that the detected low frequency mutations arose from the same single specimens that were found to contain TDR mutations by Sanger sequencing.
Laboratory studies showed that SΔNA mutations arose from duck-origin viruses after these viruses were passaged through gallinaceous hosts [13], [19], [54].
The possibility of falsely elevating the rate of TDR by separately counting TDR mutations arising from a single specimen was addressed in this study.
To provide insights into the physiological role of PiT1 in mice, we established an allelic series of PiT1 mutations arising from the combination of normal, hypomorphic and null PiT1 alleles in mice.
Since the 2007 list was published, new drug-resistance mutations have been identified including mutations arising from the increased use of non-thymidine-analog containing regimens, the expanded use of two new protease inhibitors (PIs), and the recent approval of a new non-nucleoside RT inhibitor (NNRTI).
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