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Its role in the prevention of breast cancer for women at high risk by virtue of family history or gene mutation is increasing.
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For example, if the tumour is TN, the probability of carrying a BRCA1 mutation is increased.
Another phenotype of the Arabidopsis npr1 mutation is increased pathogen growth after bacterial infection of leaves [ 18, 21, 69].
In case several mutations occur before one gets fixed, the weighting of the sequence before the accepted mutation is increased accordingly.
Noncoding promoter regions are not under purifying selection and typically the rate of mutation is increased in these regions (Stone and Wray 2001; Wray et al. 2003).
The R49C mutant of αA-crystallin has a slightly higher mass and radius of gyration, but the main effect of the mutation is increased protein insolubility [ 42].
The number of individual cases of psychiatric disorders that can be ascribed to identified, rare, single mutations is increasing with great rapidity.
12, 14 Further supporting this point is that phenocopies (PD cases in relatives who do not harbor the family mutation) are increased in LRRK2 families.
This difference remained significant (P = 0.0042), and the OR associated with the presence of a deleterious mutation was increased to 5.18 (95% CI: 1.49 to 18.00).
Thus, the predicted consequence of FHM1, FHM2, and FHM3 mutations is increased levels of glutamate and potassium in the synaptic cleft (see also Fig. 2).
Compared with a previous profile score that was based on the log-odds likelihood calculation, the correlation between predicted and experimental ΔΔG of single-site mutations is increased in this approach from 0.33 to 0.68.
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