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Almost all are point mutations or small deletions.
In contrast to QuickChange™ site-directed mutagenesis, which introduces single mutations or small insertions/deletions, RF cloning inserts complete genes without the introduction of unwanted extra residues.
This proteolytic step, which is also called ectodomain shedding, is critically regulated by the cleavage site within the IL-6R stalk, because mutations or small deletions within this region are known to render the IL-6R irresponsive towards proteolysis.
Moreover, field strains have been isolated containing missense mutations or small deletions within the coding region of the prfA gene that decrease or eliminate PrfA activity, indicating that PrfA activity is not required for optimal bacterial fitness outside of a host cell [64], [65] although a recent report indicates that some activity is required for efficient biofilm formation [66].
These PCR products were sequenced to identify any potential point mutations or small deletions.
The vast majority of APC mutations are point mutations or small insertions / deletions which lead to truncated protein products.
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Therefore, these studies did not adequately address the possibility that haploinsufficiency of a single 5q31.2 gene could arise from a heterozygous point mutation, or small microdeletion, in a 5q31.2 gene in MDS samples lacking a cytogenetic del 5q).
The lack of any other point mutation or small deletion in the SMARCB1 gene in either of them, and the lack of any mutation in the blood, confirmed de NF2 segmental mosaic nature of this patient's phenotype.
TP53 (encoding the tumor protein p53), a master regulator of cell stress responses, is a frequent mutational target in many solid tumors [ 22- 24], and pancreatic cancer is no exception; mutations in TP53 occur in up to 75% of pancreatic cancers, most often by point mutation or small intragenic deletion [ 23, 24].
For example the primer pair IPAHM 466 did not show amplification in any of the 17 accessions studied in section Heteranthae, while it showed amplification in accessions of all other sections studied; this suggests either the mutation or small deletion in primer binding sites of the primer pair for this SSR locus or complete absence of this SSR locus in section Heteranthae.
We tested the effect of single gene mutations in, or small deficiencies for, genes that encoded proteins known, or suspected, to be involved in chromatin structure or nuclear architecture.
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mutant or small
mutations or epigenetic
mutations or obvious
mutations or mutant
mutations or other
mutations or chimeric
mutations or environmental
mutations or micro
mutations or particular
mutations or chronic
mutations or allelic
mutations or homozygous
mutations or functional
mutations or structural
mutations or low
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