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Subsequently, we searched for groups of singleton mutations falling in specific mtDNA regions that may increase the susceptibility to AD.
We verified the significance of this finding by comparing the number of the tRNA+rRNA mutations with the number of mutations falling in the remaining of coding region (43 in AD patients and 37 in controls).
In particular we focused on singleton mutations falling in tRNA and rRNA genes, considering that previous studies have shown that mutations in these genes, including the transition at np 4336 (tRNAGln) and the G3196A mutation (16S rRNA), may be associated with AD [24], [42].
Using the same restriction analysis strategy as described above for the brain subparts, we observed that the duodenum mucosal layer is highly susceptible to no-change mutation accumulation (Figure 7A) with only a small fraction of the mutations falling in the size-change class.
All the mutations falling in positions within the sr1, sr2, sr3, and srX domains have been represented in Supp.
By contrast, there was no correlation between synonymous mutations falling in different subunits of OXPHOS encoded by mitochondrial DNA.
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The mutations fall in clusters.
Sequencing showed that the three modifier msl1 mutations fell in the most conserved PEHE domain that binds MSL3 and MOF.
Overall, KRS mutations appear to affect structural stability of the enzyme leading to CMT and therefore these mutations fall in category (b) and (d).
On the basis of first analysis (i), the greatest number of different mutations falls in the exon 14 (13.2%), 9 and 16 (9.4%), 2 and 5 (7.5%).
We note in Section 3.2 that although ∼25% of mutations fell in regions of CNV, sensitivity was not significantly affected when copy neutral mutations and mutations in regions of CNV were compared.
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