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008			100301s2004 xxu| fo |||| 0|eng d
020			_a9781592594320
024	7		_a10.1385/1592594328 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB155.6 _b2004 EB
245	0	0	_aMolecular Diagnosis of Genetic Diseases _cedited by Rob Elles.
250			_a2nd edition 2004
264		1	_aTotowa, NJ _bHumana Press _c2004
300			_a1 recurso en línea (X, 387 páginas)
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
490	0		_aMethods in Molecular Medicine _x1940-6037 _v92
505	0		_aOptimizing 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.
520			_aIn 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.
988			_aSpringer_Protocols_2004
650		7	_2embne _9139477 _aCitología
776	0	8	_iPrinted edition: _z9781617372599
776	0	8	_iPrinted edition: _z9780896039322
776	0	8	_iPrinted edition: _z9781489939401
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1385/1592594328 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b12/2023 _dz _ean _zSI