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Most importantly, our PG-haESCs could be randomly mutated, and all mutations analyzed so far were homozygous, indicating that monkey haploid ESCs can be utilized for whole-genome screenings for elucidating the mechanisms involved in different biological processes.
Figure 2A,B shows the results of the RT-PCR experiments on Cos-7 cells transfected with the 20 different mutations analyzed and their respective normal controls consisting of the corresponding non mutated exon.
The incidence of main CF mutations analyzed was similar to that of the south European population.
EGFR mutations analyzed from peripheral blood samples correlated with DNA analysis from matched tumor tissue; however ctDNA had a greater sensitivity for detecting EGFR mutations than DNA extracted from CTCs [70, 72, 73].
All other bah-1 mutations analyzed also disrupt the DUF23 domain.
The discrepancy could be due to the sensitivity of different techniques or different mutations analyzed.
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An additional 136 sporadic BC were examined for p53 mutations, analyzing exons 5-8 by DHPLC.
In contrast, the other second-shell mutation analyzed, D181N, does not show any appreciable difference in product binding compared to the wt enzyme.
Hence, as the probes would overlap both the SNP and the mutation, these mutations were analyzed as four mutations (c.727C>T-GG, c.727C>T-AA, c.730C>T-AG and c.730C>T-GA).
We employed techniques of modern translational medicine to identify a disease-causing mutation, analyze its altered behavior, and screen for therapeutic compounds to treat the proband.
Indeed, in a recent work, G. Lombardi et al. [ 1] reported the possibility to discriminate IDH mutation analyzing the concentration of 2-hydroxyglutarate in urinary and plasma samples.
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