Molecular Diagnosis of Genetic Diseases by Rob Elles

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By Rob Elles

This thoroughly revised and up to date moment version to integrates the numerous new applied sciences and insights now to be had for the prognosis of genetic ailments. The authors use such methodologies as PCR optimization dosage research, mutation scanning, and quantitative fluorescent PCR for aneuploidy research, Neurofibromatosis sort 1, and Duchenne muscular dystrophy. those principally well-known methodologies will be tailored to such a lot genetic stipulations for which a molecular prognosis is proper, irrespective of how widespread or infrequent their prevalence. Molecular prognosis of Genetic ailments, moment version bargains diagnostic molecular geneticists a different chance to sharpen their clinical talents within the layout of assays, their execution, and their interpretation.

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