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The mutation may help explain the causes of more common forms of high blood pressure and may also explain why some women's blood pressure rises sharply during pregnancy.
Genetic testing for this mutation may help in earlier diagnosis and better management of these cases.
In particular, the identification of a suppressor mutation may help identify new therapeutic targets or disease mechanisms.
Knowledge of the presence of a TP53 mutation may help make decisions about breast cancer therapy, especially since radiation may substantially increase an LFS patient's risk for a second primary malignancy [ 34].
Respecting the occurrence of this mutation in our MODY patients and probable development of these 3 members of this family to MODY, in future cases similar to these conditions, detection of this mutation may help the earlier diagnosis.
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We will discuss below how such mutations may help identify putative trans-splicing events in the dumpy gene.
Since this process is mainly mutagenic [6], a better understanding of the means by which P. aeruginosa acquires these mutations may help to identify the functions required for bacterial persistence.
In addition, as the pathogenesis of IBD is multifactorial, studying the nutrition and maintenance conditions of dogs with and without the mutations may help determine key triggering factors in the intestinal microbiota that are responsible for bringing about these changes and may therefore allow the development of preventative strategies not only in the dog but also in people.
Behavioural disturbances, epilepsy, myoclonus, or CAA (specific for APP mutations) may help in addressing diagnosis.
Future finer measurements of the impact of missense mutations may help correcting this problem.
Analysis of genetic heterogeneity, such as in somatic mutations, may help clarify the issue.
Related(20)
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