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Previous studies were based on ascertainment through clinically affected subjects, 1 6 were focused on one specific mutation, and studied unrelated older subjects in whom somatic mutation or mutation loss through segregation are potential confounding factors.
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Mitochondrial DNA contains a region that is particularly prone to mutation, and studying this allows the relationship between living people to be worked out by looking at which mutations they have in common.Dr Murray-McIntosh and her colleagues examined mitochondrial DNA from 54 women.
Further, natural allelic variation may or may not well represent the severe effects displayed by mutations isolated and studied in the laboratory (Anderson et al. 2011).
To identify genetic mutations and study the corneal epithelium in Japanese patients with Meesmann corneal dystrophy.
The project will nail down the risk conferred by different mutations, and study the impact of VUSs on disease.
Despite this, valuable phenotypic characteristics were identified in schizophrenia patients carrying de novo mutations and studying larger samples will be of interest.
In order to understand the structural location of the mutations and study the impact of mutations on the enzyme's structure in different species, a mutational map was constructed.
We genotyped Fok1, Bsm1, Apa1 and Taq1 gene polymorphisms in VDR by developing a unique mismatch amplification mutation assay (MAMA) and studied their association in both populations.
In addition to sporadic cases of AD, several familial Alzheimer's disease (FAD) mutations have been discovered and studied over the years.
Here, we analyzed the tandem-repeat pattern and studied spontaneous mutation rates for microsatellite markers by using the previously generated mutation accumulation lines.
To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients.
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