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VX-770 was approved in 2012 for patients with this particular mutation, under the brand name Kalydeco.
Line H6 also expresses hAPP with the Indiana mutation under the control of a PDGF promoter [ 344].
Model M rv suggests a somatic mutation under the common definition; that is, variants exist in tumor samples but not normal samples.
The P301S tau transgenic model overexpresses the 0N4R isoform of human tau containing the P301S mutation under the murine thy1 promoter [ 1].
This can be achieved by introducing the JAK2V617F mutation under the control of the endogenous Jak2 promoter via homologous recombination in embryonic stem (ES) cells.
If several measurements of the same mutation under the same experimental conditions were present, we averaged the stability changes and kept only a single entry.
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Thus, we set the selection coefficients in SFS_CODE as −10, −20 and −50 respectively for each demographic model and 80% of the nonsynonymous mutations under the purifying selection.
We are now creating a transgenic mouse model of this disorder, by expressing both tie-2 mutations under the control of its own promoter.
Thus, an increase in intron number and length will increase the distance between mutations under the influence of selection in adjacent exons.
APPSw,Ind transgenic mice (line J9; C57backgroundround) expressing the mutant human APP695 isoform harboring the FAD-linked Swedish (K670N/M671L /Indiana (V717F) mutations under the expression of the neuronal PDGFβ promoter were previously described [39], [40].
The testing of several hermaphroditic wildtype isolates also ruled out the possibility that these observations were due to the fixation of novel mutations under the force of genetic drift in our laboratory C.elegans (N2) line.
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