"mutation" in inglés with examples - Collocation dictionary inglés
- For the biological term, see: Gene mutation analysis.
- Targeted mutation analysis for the four most common GJB6 mutations is available on a clinical basis and detects mutations in approximately 100% of affected individuals.
- However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit.
- This family highlights the importance of mutation analysis in all patients with a suspected rhabdoid tumor.
- A negative mutation analysis in at-risk relatives, however, is informative only after a disease-causing mutation has been identified in an affected relative.
- In some families where the disease-causing mutation(s) is known and in certain genetic isolates, mutation analysis may be performed.
- In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders.
- The diagnosis was confirmed by measuring the SR enzyme activity and mutation analysis.
- The mutation analysis of the gene was performed using genomic DNA isolated from blood samples.
- Over time, as knowledge of the mutation base has increased, mutation analysis has played an increasingly significant role.
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