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The high recurrence of RETR114H in Chinese HSCR patients lead us to investigate whether its frequency is due to a possible mutational hot spot (i.e. arisen independently) or, perhaps, a possible founder mutation for a sub-population of HSCR patients whose significance is not yet known.
(Testing negative for these, however, would not guarantee that she's in the clear, because not every mutation for a given gene is on the list).
We tested this idea by immunizing Ig μ transgenic mice in a manner designed to select B cells that required only one VH mutation for a switch in antigenic specificity and recruitment into the memory pool.
Recessive means that both parents need to pass a genetic mutation for a child to develop the disorder.
In conclusion, we have identified a translationally silent variant in a potential exonic splice enhancer of the bovine MFN2 gene as the causative mutation for a splice defect.
Thus either the mutation is in fact a founder mutation for a sub-population of Chinese HSCR or more than one carrier has introduced the mutation into the Chinese population given its relatively young age.
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It's hard to argue that ethnicity is an empty concept when one gene mutation for an iron storage disease, hemochromatosis, affects fewer than 1percentt of Armenians but 8 percent of Norwegians.
There were 15 patients with KRAS G12C and 1 patient with KRAS G12V mutation for an overall mutation rate of 18.6%.
Thus, local adaptation to conditions surrounding LA seems a more plausible explanation than biased mutation for an excess of loci with highly positive α values.
For cases diagnosed above age of 60 years the ORs were 2.4 (P=0.0009) for NBS1 mutation, 1.8 (P<0.0001) for a CHEK2 mutation and 0.7 (P=0.6) for BRCA1 mutation.
The ORs for early-onset prostate cancer were 3.1 (P=0.003) for NBS1 mutation, 2.3 (P<0.0001) for a CHEK2 mutation and 1.9 (P=0.9) for a BRCA1 mutation.
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