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Several studies have already attempted to evaluate the association of individual BRIP1 variants with breast cancer risk either by mutation analysis or genotyping a few SNPs within the gene [16] [21], but only one included more than 1000 cases and none comprehensively evaluated all common variation in the gene.
Thus, with this approach complete information on the gene was obtained allowing a more reliable classification than solely by mutation analysis or immunohistochemistry.
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We have confirmed that the non-classical mutations detected in our series are not single nucleotide polymorphisms by mutation analysis of matched normal tissue or blood (data not shown).
Finally, based on bioinformatic analysis that suggested the importance of a CRX binding site within the minimal NXNL1 fragment, we found by mutation analysis that, depending on the context, the CRX site can play a dual role.
By mutation analysis of XacFhaB and XacFhaC genes we determined that XacFhaB is involved in virulence both in epiphytic and wound inoculations, displaying more dispersed and fewer canker lesions.
However, the fact that critical residues obtained experimentally by mutation analysis do cluster in well-defined patches at the surface of the model argue that side chain packing is correct.
Furthermore, by mutation analysis we showed that a CRX binding element located within the 134 bp Nxnl1 fragment is necessary for promoter activity, thereby implicating CRX in the cell type-specific regulation of RdCVF expression.
It is possible that these patients had a mutation that allowed for the expression of a CrT splice variant, and this is supported by mutation analysis of these patients that showed the mutations occurred outside of the known splice variants for the CrT [36], [37].
Mutations of the p53 gene as determined by mutation analysis and/or positive immunohistochemical (IHC) staining for p53 are common in ovarian cancer and have been associated with poor clinical outcome.
Conventionally, the diagnosis is confirmed by mutation analysis of the PCCA and PCCB genes.
Of 22 phenotypically INH resistant samples not detected by mutation analysis, 14 were from China.
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