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It is so far considered that the defects caused by these mutations result from altered function of cohesin in regulating gene expression during development.
A highly conserved 81 base pair core region among the β subunit of prokaryotes harbors most of the point mutations leading to rifamycin-resistant (RifR) mutations, where the majority of the clinically relevant MTB RifR mutations result from amino acid substitutions of one of the following three amino acids: βAsp435, βHis445, and βSer450 (MTB numbering).
In these cases the complementing mutations result from a stop codon.
Here it is often difficult, without examining each substitution individually, to distinguish which mutations result from selection and which are caused by random drift, and the relative importance of each mutation with respect to fold and function [33].
Phase 2 mutations result from the recognition of the U∶G mismatch by the Msh2/Msh6 complex (MutS Homologue), followed by the excision of the mismatched nucleotide and the repair, by the low fidelity DNA polymerase η, of the gap generated by the exonuclease I.
These dominant mutations result from the deletions of boundaries.
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Thus, despite generating a mutator effect itself, pol2-Y831A actually suppresses mutations resulting from loss of proofreading by Pol ε.
Most of the mutations resulted from dramatic population booms, they suggest.
Mutations resulting from translocations are assumed to be formed by misrejoining of two DNA double strand breaks (DSB), one within the gene and one on a different chromosome.
Applying the model to mutations of the hprt gene induced in G0 human lymphocyte cells by low-LET radiation, it is calculated that mutations resulting from translocations account for about 14% of the total mutations.
In addition to the nuclear germline and somatic mutations resulting from alteration in one or a small number of nucleotides, there are additional sources of genomic variation.
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