Here we studied the phenotype of variants of the essential replicative polymerase-δ carrying missense mutations in its active site, similar to those recently identified in familial colon cancer patients. We now describe an assay that permits the analysis of all types of mutations in any gene of choice through the generation of stable human cell lines, in which the endogenous protein has been inducibly replaced with its genetic variant. Unfortunately, the task of distinguishing the handful of causative mutations from rare variants remains daunting. ![]() ![]() ![]() Next-generation sequencing has revolutionized the search for disease-causing genetic alterations.
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