Abstract
Mutation detection has become a very important chapter in medicine, following the development of molecular technology for the study of pathogenic mutations in human diseases. DNA technologies allow great advances in basic knowledge of the pathophysiology of disorders, adding new means of diagnosis to characterize the molecular defect and to correlate between genotype and phenotype. The field of molecular diagnosis is evolving rapidly, and currently, it broadly comprises genetic disease analysis, paternity testing, forensic studies, assessment of genetic risk, and so on. A number of molecular techniques have been developed during the last 10–15 yr that greatly improve diagnostic and prognostic capabilities, allowing carrier detection, and prenatal diagnosis.
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Carrera, P., Righetti, P.G., Gelfi, C., Ferrari, M. (2001). Amplification Refractory Mutation System Analysis of Point Mutations by Capillary Electrophoresis. In: Mitchelson, K.R., Cheng, J. (eds) Capillary Electrophoresis of Nucleic Acids. Methods in Molecular Biology™, vol 163. Humana Press. https://doi.org/10.1385/1-59259-116-7:95
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DOI: https://doi.org/10.1385/1-59259-116-7:95
Publisher Name: Humana Press
Print ISBN: 978-0-89603-765-6
Online ISBN: 978-1-59259-116-9
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