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Exact(6)
Restricting attention to mutations detected only once in the sequencing effort would provide a measure of rarity, but an additional requirement that the variants be absent from a pool of 7,197 X chromosomal alleles served to further exclude low-frequency neutral alleles in favor of essentially private mutations.
Following re-sequencing, we excluded 10 mutations detected only on the initial PCR reaction.
Single-base-pair mutations, detected only on an ABI 3700 DNA Analyzer, were identified for marker FCA097.
On the other hand, our inclusion of 10 BRCA2 mutations detected only through a survey of male breast cancers obviously introduces a bias in the opposite direction.
Consequently, the EGFR gene status could be classified as: (i) EGFR wild type in both primary tumour and metastasis (n=18 patients; 72%), and (ii) EGFR mutations detected only in the primary tumour (n=4 patients; 16%) or the metastases (n=2 patients; 8%) or both (n=1 patient; 4%).
The products of most of the other mutated genes (sucA, dhaM, ydiQ, chbC, glpT, arnT, dppF, rfe, fdhD, fimH, csgF, dgoT, and actP) detected by both companies and the two mutations detected only by WG (csgF and ytfR), are involved in bacterial metabolism and transport (Table 1A).
Similar(54)
He said only 1 percent of women over all would have a mutation detected only by the supplemental test.
The R > L mutation, detected only in the seedless Sultanina-derived allele, affects one of the conserved motifs, and in Arabidopsis it has been shown that this C-terminal region might be a transactivation domain or contribute to the formation of multimeric MADS-box protein complexes [ 40- 42].
However, BRAF mutations are detected only in 1 2% of lung cancer patients.
Interestingly, EGFR mutations were detected only in the biopsy in 11 patients or only in the plasma in 6 patients.
Since most mutations were detected only once in this group, no specific genotype/phenotype correlations were possible.
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