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To search for causative mutations, we screened a BAC library and identified two overlapping BAC clones (AMMCBa_160B14, AMMCBa_31L9; GenBank Locus KU684456) that contained the entire tyr coding sequence, spanning 219,419 bp of genomic DNA, more than 100 kb longer than other vertebrate tyr orthologs.
By using the mtDNA point mutation detection system of Series A (29 mutations) and Series B (32 mutations), we screened a total of 3103 mutant sites in 107 DNA samples for Series A and 13,101 mutant sites in 397 DNA samples for Series B. We succeeded in determining 99.4% (Series A) and 99.6% (Series B) of the targeted mutant sites by use of the system.
In order to detect not only previously known variants, but also any novel polymorphisms or mutations, we screened the entire open reading frame of the TIRAP for sequence variation in cases with childhood TB and healthy controls.
To establish the role of TINF2 mutations, we screened DNA from 175 uncharacterised patients with DC as well as 244 patients with other bone marrow failure disorders.
To determine whether the downregulation of the enzyme activities reported in renal carcinoma is associated with mtDNA mutations, we screened the entire mtDNA of 15 paired tumour and the corresponding normal kidney samples by denaturating HPLC analysis (DHPLC) analysis.
To identify mouse lines carrying the equivalent of human ALS causative pathogenic mutations, we screened for mutations in Sod1 using genomic DNA from an ENU-induced mutagenesis archive containing over 10 000 mice (25, 26).
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To assess the specificity of the Rv2042 GGC mutation, we screened 2 isolates of all M. tuberculosis complex (sub species and 2 isolates of all M. tuberculosis groupings, on the basis of >60% IS 6110 similarity, for this mutation; we did not find it in any of the strains tested (data not shown).
As the parental yeast strain of the insertion library mutants contains the ade6-M216 mutation, we screened for an alteration in colony color from pale pink (the ade6-M216 phenotope) to red or white when cells were grown in rich medium with low concentrations of adenine.
Using a different approach, we studied the family members of five unrelated patients with marrow failure and telomerase mutations; we genetically screened relatives who had a variety of hematologic, hepatic, and autoimmune disorders.
To assess the quality of CharMono mutant collection and to estimate the mutation density, we screened for induced mutations in 11 genes related to fruit quality.
At the end of so many mutations considered, we screened R326H and R356Q as the most deleterious and disease associated mutation in TYRP1 gene (Table 3).
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mutations we stratified
mutations we constructed
mutations we hypothesized
mutations we compared
mutations we designed
mutations we generated
mutations we performed
mutations we analyzed
mutations we amplified
mutations we identified
mutations we observed
mutations we found
mutations we knocked
mutations we determined
mutations we sought
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