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Certainly, induced mutations such as Clock are important for understanding the mechanisms of the circadian clock [28]; however, our approach to isolate naturally occurring mutations that cannot be achieved by mutagenesis or gene knockout may be useful for understanding the mechanisms underlying circadian and its related disorders in human [29].
The pedigree recommended in Fig. 1 works well for mutations that have a closely linked XFP gene, and for mutations that cannot be made homozygous or that are difficult to trace because of a lack of phenotype or lack of a marker gene.
In addition, the incidence of microsatellite instability is consistent with the potential to accumulate point mutations that cannot be detected by the genomic microarray.
In addition, the lack of recombination must be responsible for the effect known as Muller's ratchet, the random accumulation of deleterious mutations that cannot be removed by recombination [ 49, 50].
Both the BiPT37G and BiPG226D mutations that cannot attain the ATP-induced coupled conformation ([ Wei et al., 1995] and Figure 5 figure supplement 1 and Figure 5 figure supplement 2) promoted oligomerization, in sharp contrast to BiPADDA.
We concluded that the MMA is an accurate molecular method for the rapid multiplex detection of diagnostically and prognostically relevant markers, including for submicroscopic abnormalities, such as ETV6 RUNX1 or NPM1 mutations, that cannot be detected by cytogenetic methods.
Similar(54)
A minority of MSI-positive tumours may be due to germline mutations in MMR genes that cannot yet be detected.
It is well known that mutations causing TKI resistance that cannot be detected in the pre-treatment specimen in patients responding to TKIs may be detected later when the patients relapse [ 10].
The presence of this mutation in tetrapod proteins that cannot be found in any studied teleost species suggests that this mutation appeared just after the sarcopterigian radiation.
Epistatic effects can be clearly defined and verified when a combination of two mutations yields an unexpected phenotype that cannot be explained by the independent effect of each mutation [ 1].
In contrast, selection starting from a genetically variable founder population allows explorations of the realized selection response from standing genetic variation but makes it difficult to assess the impact of novel mutations that may occur, because they cannot easily be detected or monitored.
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