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Cell line harboring the p.Q279H mutation showed low levels of E1- α protein by Western blotting and was unresponsive to phenylbutyrate (cell line 18, Fig. 1A and B, Table 1).
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In the last decade, Dr. Oktay observed that women with BRCA-mutations show low response to ovarian stimulation.
Even though BRCA1 loss through mutation shows low S-phase compared to others, the frequency of low and high S-phase in subgroups of BRCA1 status was not statistically different (Table 2).
Infants with G6PD c.563C > T mutation showed markedly low levels of G6PD enzyme activity (mean ± 1SD; 0.3 ± 0.2 U/gHb) in comparison with G6PD normal infants (mean ± 1SD; 14.0 ± 4.5, p < 0.001).
Both overexpressing and control cells showed low spontaneous mutation frequencies, i.e. below five mutations per 10 cells (results not shown).
Similarly, the vector containing a point mutation in the Ter site showed low to moderate signal (arbitrary units of 4738 and 10920 from Cy5 and Cy3 respectively; Fig. 2).
Functional prediction showed low to intermediate pathogenicity for all non-conserved mutations.
Hence, by the present argument, patients with MAPT mutations should show low (normal) plasma TDP-43 levels and those with PGRN mutations should show high er) plasma TDP-43 levels.
The A86G mutation shows very low activity and the C and U mutations are totally inactive.
In this study, pseudogenes were separated in two groups, with the group of pseudogenes with one mutation (showing a low mutation rate) and the second group with an elevated mutation rate (>4 mutations, on average).
In the absence of mutations (STM057/05), the strain showed lowest MIC value (MIC 6 μg/mL).
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CEO of Professional Science Editing for Scientists @ prosciediting.com