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Since the index report we have identified four unrelated patients of Somali ancestry with the same INSR mutation, which did not occur in any other patients with severe insulin resistance.
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Also, rs147564881 is a rare mutation which does not seem to be enriched within the Swedish CH patient group.
In these tests, the unc-13 mutation (which does not affect dauer formation) served to prevent the strain from avoiding the pathogen.
These date indicate that in the context of the Nef LL164/165AA mutation, which does not affect MHC-I down-regulation under native conditions [19], the fusion of the MHC-I CD to Nef generates a chimeric protein sequence that is recognized in T cells by the endosomal sorting machinery.
In fact, the formation of the common deletion is significantly reduced by this mutation, which does not affect the distribution of other mtDNA deletions in this haplogroup [ 44], suggesting that the reference sequence must be intact for the common deletion to occur.
While poromas exhibited only few mutations, which did not involve TP53, the majority of porocarcinomas harboured UV-mediated mutations in TP53 with some of these cases showing considerable genetic heterogeneity that may be clinically exploitable.
To better define the role of PTB in the FCV life cycle and to allow the generation of mutations which did not result in large scale disruption of the RNA secondary structure, we first determined the structure of the 5' end of the FCV genomic RNA using ribonuclease (RNase) digestion.
All new mutations which did not result in amino acid residue replacement were synonymous substitutions.
As was the case in MPN, older age was associated with a higher incidence of TET2 mutations, which did not otherwise affect prognosis in either MDS or CMML.
In our co-immunoprecipitation experiments, this double serine mutation weakened PER2 binding to a lesser degree than the zinc finger mutations, which did not elicit a similar period-shortening effect.
Further analysis revealed that of those 40 mutations, 2 were nonsense and 22 were missense, whereas 17 were silent mutations, which did not have any effect on CBX2 protein sequence.
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