Sentence examples for mutations and study from inspiring English sources
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.
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.
Here, we generated human ES cells designed to conditionally express heterozygous and homozygous STXBP1 loss-of-function mutations and studied isogenic WT and STXBP1-mutant human neurons derived from these conditionally mutant ES cells.
Despite this, valuable phenotypic characteristics were identified in schizophrenia patients carrying de novo mutations and studying larger samples will be of interest.
A2143G and A2142G are the most prevalent point mutations, and studies have claimed that these mutations play a major role in clarithromycin resistance [ 5, 23].
These considerations have discouraged the study of individual mutations and most studies have focused on the study of the prognostic differences between genes or functional domains.
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.
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.
Objectives: To evaluate the feasibility of molecular prenatal diagnosis in families with mitochondrial trifunctional protein (TFP) mutations and prospectively study the effects of fetal genotype on pregnancy outcome.
Using Drosophila as a model system allows us to rapidly generate flies with any number of specific mutations, and then study the consequences of these mutations at the biochemical, cell biological, developmental, electrophysiological and behavioral levels.
