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The frequency of mutations investigated in the present study is estimated to range from 0%to8%8% in individuals with probable CAA in the general population, based on the ascertained sample size.
The mutations investigated in this study are AR-F764L, AR-R840C, and AR-P766S.
Thus, for the 9 month dose and up to 12 months of age data it appears that factors other than the mutations investigated were influencing protective efficacy.
Instead, we observed, the dimerization behavior of TPI is influenced by the particular mutations investigated, and by the use of a potential alternative translation initiation site in the TPI gene.
Based on available sample size, exact confidence limits for binomial proportions estimate the frequency of mutations investigated in the present study as ranging from 0% to 8% in individuals with probable CAA in the general population.
Among all mutations investigated affecting base-pair interaction C1409-G1491, transversionsion mutations G1491C and G1491U (resulting in pyrimidine-pyrimidine oppositions) confer the highest level of resistance, in particular to paromomycin.
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The orthologous mutation investigated here caused a hypersensitivity to aldicarb in C. elegans (Figure 6) which is compatible with an increase in fusion events at the neuromuscular junction.
Another mutation investigated here is at position Ala1099, which is located between the β1' and β2' sheets.
We review the diagnostic records of the 62 prenatal samples (17 mtDNA and 45 nDNA) analysed since 2007, the reasons for testing, mutation investigated and the clinical outcome.
To further resolve whether high levels of variation in centromeres result from the action of gene conversion or spontaneous mutation, I investigated the mutation spectrum in centromere sequences.
We identified families with autosomal dominant optic atrophy (ADOA), determined the number and type of OPA1 mutations, and investigated the phenotypic variation and penetrance in ADOA Australian pedigrees.
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