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All patients had biopsy proven amyloid deposits and TTR mutations determined by DNA sequencing.
We observed that 17% of the TCGA samples had no detectable mutations in the 47 genes of our panel, as compared with the 10% of samples with no detectable mutations determined by our approach.
In previous studies, the chemical severity of disease-causing mutations, determined by the Grantham's Scale, were on average larger than interspecific changes, and not correlated with evolutionary changes found at the same sites [ 21, 22].
Four strains of H. pylori were used as positive controls: one reference strain (J99) with the wild type genotype/phenotype and three Clarithromycin-resistant strains (HP 825, HP 225 and HP 222) with mutations determined by sequencing of the 23 S rRNA gene (mutations A2142C, A2142G and A2143G, respectively) [ 14].
Only specific p53 mutations, determined by sequencing of the p53 gene, are most informative in predicting response to systemic therapy of advanced breast cancer (Berns et al, 2000), whereas we examined early stage breast cancer by p53 immunohistochemistry, which is less accurate in detecting mutations.
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Angers, R. C. et al. Prion strain mutation determined by prion protein conformational compatibility and primary structure.
ES cells were injected into C57BL/6 blastocysts, chimaeric males bred to C57BL/6 females and germ-line transmission of the mutation determined by Southern blot analysis and PCR amplification of tail DNA.
The accuracy of the pyrosequencing was evaluated by analysis of 11 PTCs for which the BRAF 1799T>A mutation determined by Sanger sequencing was verified.
We have isolated independent Chinese hamster ovary (CHO) cell mutants at the hypoxanthine guanine phosphoribosyltransferase (hprt) locus from untreated, 60Co gamma-ray-exposed, and 212Bi alpha-exposed cells and identified the molecular changes underlying the mutation determined by multiplex polymerase chain reaction (PCR -based exon deletion analysis.
The frequencies of all kinds of mutations are determined by the global parameter Mutation Rate, with the rates of different types of mutations being multiples of this parameter.
The frequency of inherited mutations is determined by a process of multigenic mutation-selection balance (Nunney 2003), a population-level phenomenon not controlled by individual genotypes; however, somatic mutation is controlled at the individual level.
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