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Individuals carrying the Arctic mutation are known to be prone to development of AD early in life [19], possibly because of the formation of oligomers and protofibrils, considered to be more toxic aggregates of Aβ peptide than fibrils.
Intriguingly, many of the cell wall metabolites lost via mutation are known to be highly antigenic in other mycobacteria.
FH patients affected by the APOB mutation are known to have lower TC/LDL-C than those with a defective LDL-receptor [18,20].
First, the adaptive substitution and its role in gene regulation as either a cis- or a trans-regulatory mutation are known.
The effects of mutation are known to change as a result of both the physical environment and the genetic environment [ 20, 21].
The HSPG2 gene encodes for a ubiquitous multifunctional protein within the extracellular matrix in which loss of function mutation are known to result in a musculoskeletal phenotype in both mouse and humans.
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C61S mutation is known to confer resistance to TAC.
Rett syndrome, which is a progressive, central nervous system disease that is caused by a gene mutation, is known to present with various symptoms.
Kras mutation is known to be a strong indicator of resistance to EGFR targeted therapies [42], [43].
L1014S mutation is known to be associated with a high level of resistance to DDT, but a low level of resistance to pyrethroids [8].
Substitution by a valine could generate steric hindrance and this could explain why this mutation is known to increase quinolone resistance [42].
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com