Molecular Diagnosis of Genetic Diseases

Molecular Diagnosis of Genetic Diseases

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This completely revised and updated second edition integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.The Apple and E keys can now continue to be depressed until all the secondary peaks have been inspected and the end of the sequence has been ... HPLC purification of sequencing primers, although expensive, should eliminate this problem. ... A common problem observed with sequencing data is an electropherogram that commences strongly but then declines in intensity until there is no signal.

Title:Molecular Diagnosis of Genetic Diseases
Author:Rob Elles, Roger Mountford
Publisher:Springer Science & Business Media - 2004-01


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