Sentence examples for mutation affected by from inspiring English sources
We report the case of a patient carrying the p.Arg583Gln mutation affected by hemiplegic migraine and late onset ataxia and we performed a literature review about the clinical features of p.Arg583Gln.
However, the relationship between the zebrafish phenotype and the molecular cell biological roles of strumpellin demonstrated in mammalian cells is not clear, and it is important to examine systematically whether strumpellin mutations affect, by a loss-of-function or dominant negative effect, the known functions of the protein in mammalian cells.
Specifically, we determine how the fixation probability of a specific target mutation is affected by positive and negative interference of other mutations.
Accordingly, the individuals homozygous for the SLC39A13 loss of function mutation were affected by a disorder analogous to that observed in the Slc39a13-KO mice and corresponding to the novel EDS variant.
The accuracy of the predicted status of the causative mutation is affected by the size of the QTL, as well as by the presence of other QTL nearby.
Correlated mutations are affected by several types of noise, which is difficult to disentangle from the real signal.
The question raised by the preceding analysis is whether the predicted impact of mutations was affected by a biased estimate of W0.
We have identified one novel frameshift mutation affecting BRCA2 caused by an -/AC insertion affecting one patient only (Table 2).
Our studies now reveal that the β T238A mutation affects microtubule dynamics by dramatically reducing the frequency of catastrophe and the rate of shrinking, and that the mutation affects microtubule structure by attenuating post-GTPase conformational changes in the lattice.
This presumed function of RNA Pol II, which would be compromised by the rpb2-m203 mayalson, may also be affected by mutation in the Med8-Med18-Med20 submodule.
Possibly Wnt3a levels in the mutant are affected by a mutation in a regulatory element.
