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The derived viral strains carrying the mutations exhibited a variety of distinct plaque phenotypes.
When nicotine was used as an agonist, four mutations exhibited a statistically significant hypersensitivity to nicotine (S438D, S469A, Y576A, and S589A).
Both the p.Arg420His and p.Arg423His mutations exhibited a strong dominant negative effect when expressed at a 1∶1 ratio of wild type to mutant subunit, which is the expected ratio found in SCA13 patients.
However, T>G/A>C mutations exhibited a transcriptional strand bias but not expression-related mutation prevalence.
Cancers with BRCA1 or BRCA2 mutations exhibited a characteristic combination of substitution mutation signatures and a distinctive profile of deletions.
At 24°, double mutant combinations of emb-1 (hc62ts ) with these suppressor mutations exhibited a partial suppression of the emb-1 one-cell arrest phenotype (Table 3).
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Two of the mutations exhibit a dpov phenotype and two are dpolv mutants, one of which, dp104A, is a complementing mutant (see below).
Still, when we focus on the mutants that show high-aggregation propensities, we find that the majority of patients with these mutations exhibit a rapid disease course.
Individuals with GJB2-associated deafness who harbour two nonsense/truncating mutations exhibit a much more severe clinical phenotype, and hence are more likely to come to clinical attention, than those harbouring two missense mutations (Azaiez et al. 2004).
No data are available that would suggest children with KCNJ11 mutations exhibit a different reaction to ketamine than healthy children, suggesting a disease-specific bias also is not likely.
As already mentioned all affected males with MCT8 mutations exhibit a typical thyroid profile which makes it crucial to request these hormones, including T3 early in the investigation [ 3, 8, 9].
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