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The development of specific PGD strategy for each couple involved DNA analysis of the parents and affected children prior to PGD, including a mutation verification, polymorphic marker evaluation, whole and single sperm testing to establish the normal and mutant haplotypes and PGD by polar body analysis and/or embryo biopsy.
The synthesis of the two novels mutants including a mutation in the VH-VL interface of protein finally represented the best solution to reduce the aggregation and to allow a successful radiolabeling.
Finally, a genetic screen for M1-defective phenotypes identified nine mutations for M1 development, including a mutation that may affect neuronal differentiation or cell fate specification.
On comparing 7 strains of Ad7d, 5 strains of Ad7l showed nucleotide substitutions at 18 sites, including a mutation site at 0.93 map units.
The FEL model revealed a total of 23 sites under selection using this model, including a mutation in the highly conserved small peptide ASARM (from aspartate to glicine).
In the fcho-1 suppressor screen we isolated multiple mutations in the equivalent residue (T160) of the worm mu2 subunit, including a mutation to the phosphorylation-defective amino acid alanine.
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This fourth predicted intracellular loop of Slc11a2 (targeted in construct 8b) follows a segment highly conserved among Slc11 orthologues, including a mutation-sensitive and highly conserved 20 amino acid sequence motif (positions 384−403).
If volunteers from the same family included a mutation carrier and a non-carrier, the mutation carrier was used as the proband.
In addition, the induction by Hypoxia and DMOG, but not the basal promoter activity, was lost when the reporter construct included a mutation in the HRE motif (figure 3D).
Unlike previous applications of kin-cohort estimation [17], [19] [21], we could not assume that the censoring events were independent of the mutations under study because diagnosis of a BRCA1/2 mutation-related cancer made the unknown genotype more likely to include a mutation.
Twelve of these 13 clones included a mutation in codon 572 of the rpoB gene, with three different mutations observed in that codon (Table 1).
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