Molecular Diagnosis of Genetic Diseases [electronic resource] / edited by Rob Elles, Roger Mountford.

Totowa, NJ : Humana Press : Imprint: Humana Press, 2004.
1 online resource (X, 387 pages)
Second Edition.
Methods in Molecular Medicineā„¢, 1543-1894 ; 92
Springer Protocols (Springer-12345)
Methods in Molecular Medicineā„¢, 1543-1894 ; 92
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Human genetics.
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Biomedicine. (search)
Human Genetics. (search)
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In this new edition, leading scientists actively engaged in providing clinical molecular genetic testing have completely revised and updated this highly praised work to include the many new technologies and insights now available for the diagnosis of genetic diseases. Now organized around generic technologies applied to disease-specific diagnosis, 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. This new edition widens the range of specific diagnostic applications and includes such new topics as comparative sequence analysis and an overview of methods in mutation detection. The largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant, no matter how frequent or rare their incidence. As in the first edition, each readily reproducible protocol contains step-by-step instructions, background information, equipment and reagent lists, and tips on troubleshooting and avoiding known pitfalls. Up-to-date and highly practical, Molecular Diagnosis of Genetic Diseases, Second Edition integrates all the latest technologies with the now standard approaches of the first edition, and offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.
Optimizing PCR for Clinical Diagnosis
Current and Emerging Techniques for Diagnostic Mutation Detection
Mutation Scanning for the Clinical Laboratory
Mutation Scanning for the Clinical Laboratory-Protein Truncation Test
Mutation Scanning for the Clinical Laboratory
Comparative Sequence Analysis
Gene Dosage Analysis by Multiplex Amplifiable Probe Hybridization
Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence-PCR
Fragile X Disease
Huntington's Disease
Hematological Applications
Cystic Fibrosis
Familial Adenomatous Polyposis
Multiple Endocrine Neoplasia Types 1 and 2
Neurofibromatosis Type 1
Duchenne and Becker Muscular Dystrophy
Spinal Muscular Atrophy
Quality Management in Molecular Genetics
Regulation of Genetic Testing in Clinical Practice.
Elles, Rob. editor.
Mountford, Roger. editor.
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10.1385/1592594328 doi
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