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008			100301s1996 xxu| s |||| 0|eng d
020			_a9781592595891
024	7		_a10.1385/0896033465 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC
245	1	0	_aMolecular Diagnosis of Genetic Diseases _cedited by Rob Elles.
250			_a1st edition 1996
264		1	_aTotowa, NJ _bHumana Press _c1996
300			_a1 recurso en línea (X, 356 páginas) _b
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 _v5
505	0		_aAn Overview of Clinical Molecular Genetics -- PCR Techniques for Deletion, Linkage, and Mutation Analysis in Duchenne/Becker Muscular Dystrophy -- Detection of Unstable Trinucleotide Repeats -- Searching for Mutations -- Methods for Screening in Cystic Fibrosis -- Characterization of Gene Rearrangements and Gene Conversion Events in the 21-Hydroxylase Gene -- Molecular Analysis of X-Chromosome Inactivation -- Risk Analysis -- Hemoglobinopathies -- Automated Genotyping in Diagnosis -- Genetic Counseling and Molecular Testing -- Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes -- Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood -- PCR from Single Cells for Preimplantation Diagnosis -- FISH in Preimplantation Diagnosis -- Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses -- Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy -- Fluorescent Sequencing Protocols in Diagnosis -- High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis -- Quality Assurance in Molecular Diagnosis.
520			_aMany previous volumes concerned with methodology in human genetics have been written by research scientists and naturally reflect that culture. Molecular Diagnosis of Genetic Diseases aims to diverge from previous titles by presenting contributions that cover a key method in detail, but are set in the context of a diagnostic area or genetic disease. In this format, the book attempts to cover nearly all of the most common genetic disease diagnostics that are offered as services by clinical molecular genetics laboratories, thus contributing a reasonably comprehensive handbook for this type of center. Most of the authors are active scientists working in clinical diagnostics. The methods reflect their working experience in attempting to assure robust, reli­ able results, and to include essential controls, quality standards, and interpre­ tive guides. Molecular Diagnosis of Genetic Diseases is primarily aimed at scien­ tists, clinicians, and technologists working in clinical molecular genetics, especially those working in, or with, diagnostic laboratories. Others who will find the book useful include students and scientific workers at the interface of research genetics and diagnostics, forensic scientists, and biotechnologists. Those concerned with the commercial development of the diagnostic field and with regulation or improvement in standards in molecular genetics, both in professional bodies or government agencies, will also be interested in this book. In addition, scientists planning to develop novel molecular genetic diagnostics in countries with little or no experience in this field will find the book a usefixl starting point.
700	1		_aElles, Rob _eeditor literario _4edt _4http://id.loc.gov/vocabulary/relators/edt
776	0	8	_iPrinted edition: _z9780896033467
776	0	8	_iPrinted edition: _z9781489940759
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1385/0896033465 _z(usuarios Universidad Europea de Valencia)
942			_2lcc _cLE
988			_aSpringer_Protocols_1996
999			_c234025 _d234025