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Even more complicated situations arise when different mutation forms are considered.
Moreover, animal models engineered for the cardiac-specific expression of DSC2 mutation forms will help to provide mechanistic insights into ARVC.
The nature of different phenotypes associated with the FMR1 mutation in its premutation and full mutation forms and the inheritance pattern are complex.
Induction of mutation forms an integral part of breeding program as it widens the gene pool through creation of genetic variability.
Interestingly, in addition to the polar residue insertion (K208N/G202E) and loop remodeling described above, the G266S mutation forms another new polar interaction, albeit with a crystallographic water and the side chain N210 that directly coordinates the Ca2+.
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AlexaFluor 555 and 647 reactive maleimides are conjugated to PA monomers via sulfhydryl modification of the unique Cys residue introduced by the K563C mutation, forming PA K563C*AF555 and PA K563C*AF647, respectively.
Murine ADAMTSL2 containing the p.R221C mutation formed anomalous disulfide-bonded dimers when transiently expressed in COS-1, HEK293F and CHO cells, and was present in the medium of these cells at lower levels than wild-type ADAMTSL2 expressed in parallel.
Other multiple mutants, all of which contained the K227Q mutation, formed dramatically reduced levels of undesired ligation products.
The full mutation form of the FMR1 gene consists of over 200 repeats and is abnormally hypermethylated.
trifolii strain with a rosR mutation formed dry, wrinkled colonies on agar plates, which were significantly different from those formed by the wild-type bacteria.
In contrast, the strain with the rosR mutation formed large aggregates with many grouped cells, which considerably outnumbered the single cells present in the culture.
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