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Mutations are useful to geneticists in enabling them to investigate the components of any biological process.
Large-scale mutagenesis screens to generate disruptive mutations are useful for identifying and understanding the activities of genes.
Although murine models with single-gene mutations are useful to study the effects of a few genes with major effect on human obesity, monogenic defects account for only a minority of patients with morbid obesity.
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As the finding of pathogenic CDH1 mutations is useful for management of HDGC families, screening for deletions should be offered to at-risk families.
Our data suggest that the fish model of human FKRP mutations is useful to investigate the pathogenesis associated with the FKRP gene and serves to elucidate the role of FKRP in developmental processes associated with the glycosylation of α-dystroglycan.
Analysis of mutations is useful in many ways: the study of cancer-prone DNA repair diseases (Xeroderma pigmentosum, Ataxia telangiectasia, Fanconi's anemia, Bloom's syndrome and others) has given valuable insights in the type and function of genes responsible for maintaining DNA integrity (14 18).
Thus, T4 Rn2tr mutants containing the K227Q mutation are useful for reducing undesired ligation products.
Determination of the common late-onset splice site mutation is useful in Caucasians.
Taken together, the AD&FTLD and PD Mutation Databases are useful tools to work out a gene and exon priority scheme for mutation screening, for example, in the context of clinical genetic counseling.
Therefore, its maternal inheritance and relatively high mutation rate are useful for elucidating the phylogeny of the species.
Conditional mutations are also useful in that they allow for the easy propagation of homozygous mutant strains at the permissive temperature, and can be used to sensitize genetic backgrounds at intermediate temperatures for use in screens designed to identify second-site modifier loci as enhancers or suppressors of viability [10], [11], [12].
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CEO of Professional Science Editing for Scientists @ prosciediting.com