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Because no pathogenic germline mutations could be detected by conventional mutation detection techniques in cohort, the patients were subjected to LGR screening by MLPA.
Because no pathogenic germline mutations could be detected by conventional mutation detection techniques (DGGE and/or sequencing) in the cohort, the patients were investigated for the presence of LGRs in their germline by MLPA (next section).
Third, most of the mutation detection techniques are unable to detect large deletions and insertions, so that these types of mutations, which may account for 5-15% of deleterious mutations, would be undetected.
Various KRAS mutation detection techniques have been investigated on sputum specimens (Table 1).
Several CEL I-based mutation detection techniques have been developed [ 8- 12].
A wide range of mutation detection techniques exists, of which sequencing has been the gold standard (Krypuy et al, 2006).
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In addition, our results confirm previous studies suggesting that treatment with cetuximab may be ineffective even when a small number of MUT clones are detected by a mutation detection technique more sensitive than direct sequencing.
Sensitivity of the mutation detection technique was assumed to equal 70%and80%0% for BRCA1 and BRCA2, respectively.
We did not detect any coding region variation in the RAD51 gene using the highly sensitive mutation detection technique DHPLC.
HRM does not require post-PCR separation, significant cost savings are achieved and becomes the most important mutation detection technique and has been widely applied in the polymorphisms detection and epigenetics studies [ 22, 37, 38].
We sought to determine whether there is a role for BCoR-L1 as a high-risk breast cancer predisposition gene by screening the coding region of the gene in 38 BRCAX breast cancer families by means of the highly sensitive mutation detection technique, denaturing high-performance liquid chromatography (DHPLC).
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