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If this change results in a functionally different amino acid, then a missense mutation may result.
When a normal gene is inserted into a mutant nucleus, it most likely will integrate into a chromosomal site different from the defective allele; although this may repair the mutation, a new mutation may result if the normal gene integrates into another functional gene.
When a normal gene is inserted into the nucleus of a mutant cell, the gene most likely will integrate into a chromosomal site different from the defective allele; although that may repair the mutation, a new mutation may result if the normal gene integrates into another functional gene.
The novel mutation may result impaired M9 transmembrane domain, in a loss-of-function of the alpha(2) Na/K-ATPase with glutamate accumulation, alteration of synaptic function and neurotransmission.
In humans, simple deficiency of many serpins (e.g., through a null mutation) may result in disease (see Table 1).
Single-point mutation may result in functional alteration owing to the global or local structural change in the protein.
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Replication is imperfect; therefore, genomes may mutate randomly, and mutations may result in a variety of phenotypes, such as the ability to metabolize different resources.
The appearance of these mutations may result in therapy failure.
Different kinds of G6PD mutations may result in variable severity of clinical onset in G6PD-deficient individuals.
These analyses showed that 211 mutations may result in alteration of the biological activity of GUSBp, including previously experimentally validated mutations.
MepR substitution mutations may result in mepA overexpression, with A103V most common in clinical strains.
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