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Among the seven single-point mutations, only the A112V mutation had a negative effect on β-HCH degradation activity, while the other six mutations showed a slightly positive effect on enzymatic activity towards β-HCH (Figure 3b-h and Figure 5).
and T. sp. C.P.K. 524 were silent mutations, only the amino acid sequence of MAT1-1-2 of T. parareesei nom.
Of the identified mutations, only the V124I variant in MTNR1B (Table 1) gives rise to an amino acid change.
Surprisingly, from the two FSGS-associated mutations, only the A181P mutation decreased Myo1 stability, whereas the T140I mutation did not.
When the analysis was restricted to patients with common EGFR mutations only, the PFS advantage over chemotherapy was more pronounced.
To reduce the potentially confounding effect of genetic background, for CDKL5 mutations only the clones derived from the female patient were used.
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In the H19DMD-ΔR mutation, only the CTCF binding sites within the DMD have been deleted (12).
34 For the patients with the c.441A>T and c.453+7A>G mutation only the clinical diagnosis "PMD" was provided.
The following primer was used to generate the C262A mutation (only the sense strand is shown): C262A 5′-GA-CTTCATGCTAGCATCAATTTACATCTAGCCGCAAATTAT-CTTTTGG-3′.
The disease is caused by genetic mutations only, and the genetic mutations are known in the vast majority of patients that have been diagnosed to date.
In freshly selected mutants, we discovered coding sequence mutations only in the Dictyostelium orthologue of the tumour suppressor NF1.
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