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This sequence was also most difficult to model in LOSO in previous work [22], and as mentioned above the cause is likely that this sequence forms a singleton as it is the only sequence carrying mutation E138G.
Molecular diagnosis was performed by sequencing the exons and intron-exon boundaries of Notch3 gene (starting from exon 3 and 4, most often carrying mutation).
Under these experimental conditions, all of the IN carrying mutation of Y15A, K186Q, Delta-KRK or LL241,242AA significantly reduced binding to endogenous SIP1 (Figure 1B).
The results presented in Fig. 2 indicate that a mutation in arcA results in a substantially slower growth rate of cells under aerobic conditions while the growth rate of strains carrying mutation in either crp or etrA was identical to that of wild type MR-1, consistent with previous reports [1], [11], [13] [14].
In the connecting SDM, two resulting PCR products are ligated to form fused DNA carrying mutation situated in the middle.
A slightly reduced RPS19 expression was found also in patient 3 carrying mutation c.1-1G>A (fold change 0.84).
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Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6.
Rodríguez-Ballesteros, M. et al. Auditory neuropathy in patients carrying mutations in the otoferlin gene (OTOF).
Wang, H. et al. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering.
In addition, some immune escape mutants carrying mutations on the S antigen were reported.
We see this variability in outcome as well among women who have a powerful inherited susceptibility to breast cancer, carrying mutations in their BRCA genes.
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