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The frequency of this mutation is greater than 95%% in patients with polycythemia vera (PV) and around 50%% in patients with essential thrombocythemia (ET) or primary myelofibrosis (PMF).
We argued that the reason that these same older testes all have substantial mutation clusters for the Apert syndrome mutation is that the selection parameter for the Apert mutation is greater than for the MEN2B mutation (19).
Interestingly, the frequency of codon 129 in MV heterozygous patients with the V180I mutation is greater than that in the general Japanese population, creating a discrepancy in the hypothesis that codon 129 homozygosity increases the susceptibility to prion disease.
In patients who are treated with insulin within 6 months of diagnosis, a lower post-test probability of >10% could be considered appropriate as the impact of finding a mutation is greater than for a non-insulin-treated patient, both financially, through saved treatment costs, and in terms of improved quality of life.
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Episode percentages tended to be greater when the degree of mutation was greater, and a significant difference was observed between the CC and TT alleles (P < 0.01).
The prevalence of this mutation was greater among the high-risk families where one out of 76 (1.3%) carried the mutation.
When compared to wild type receptors, the effects of the 5-HT3AT6'S mutation were greater in heteromeric receptors.
The deleterious effect of the Y1043F mutation was greater at subsaturating k2/K1/2 conditions encountered below approximately 3 μM enzyme concentrations, indicating that Y1043 also contributes to binding of the RNA substrate.
However, the observed absence of a correlation between the activity as a chaperone and defects in leaf development and cell division in eal-1 plants might be explained by the assumption that the developmental effects of the eal-1 mutation are greater in vivo than the effects of the eal-1 mutation on chaperone activity in vitro.
Defining fitness for the double mutants as wij = (1 + s i ) (1 + s j ) + ε ij, we obtained MLEs for the epistasis parameters (ε ij ), all of which were statistically different from zero and positive, indicating that the combined fitness effect of two gyrA mutations (or in one case, a gyrA and a parC mutation) was greater than that predicted under a scenario of multiplicative non-epistasis.
Such interactions have already been demonstrated by genetic studies in mice with compound mutations in MAGUK proteins [36] and NMDA receptor subunits [12] wherein the effect of carrying multiple compound mutations is greater than that of their parts, and results in more severe phenotypes.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com