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The evolution of the two patients supports the evidence that prognosis for aHUS with no identified mutation is as poor as in patients with identified complement factor mutations, in the absence of adequate therapy [ 17].
It is critical to check each clone to assure that the mutation is as desired and planned, before we continue in the experiment to inject the cells to produce chimeric mice.
The proper perspective for considering the likelihood of transmission of any random mutation is as a discrete form of infectious interchange with sexual reproduction as a carefully controlled type of infectious interplay.
Here we propose a further extension to these assumptions namely, if a mutation is as deleterious in non-human mammals as it is in humans unless paired with a compensatory partner, the corresponding compensatory residue should be able to rescue the impairment of the human protein.
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However, the full clinical relevance of PALB2 mutations is as yet uncertain.
The mechanism of this genotype phenotype association according to the location of the mutations is as yet unclear.
The observed high frequencies of FGFR3, TP53, and PIK3CA mutations were as expected.
The primers for the site-directed mutagenesis to introduce the missense mutations were as follows.
Given the sequences of the seven targets, the distribution of mutations was as expected.
The problem of distinguishing driver and passenger mutations is as acute for structural mutations as it is for point mutations [ 10- 13].
The low number of recurring silent mutations is as expected and reinforces the reliability of the data.
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