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008			120103s2012 xxu| o |||| 0|eng d
020			_a9781617795046
024	7		_a10.1007/978-1-61779-504-6 _2doi
040			_aES-MaUEC _bspa _cES-MaUEC _dES-MaUEC
050		4	_aRB147.5 _b2012 EB
245	0	0	_aMitochondrial Disorders : _bBiochemical and Molecular Analysis _cedited by Lee-Jun C. Wong
250			_a1st edition 2012
264		1	_aTotowa, NJ _bHumana Press _c2012
300			_a1 recurso en línea (XI, 352 páginas) _b56 ilustraciones, 14 ilustraciones a color
336			_atexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_aarchivo de texto _bPDF
490	0		_aMethods in Molecular Biology _x1940-6029 _v837
505	0		_aMitochondrial DNA Mutations: An Overview of Clinical and Molecular Aspects -- Nuclear Gene Defects in Mitochondrial Disorders -- Diagnostic Challenges of Mitochondrial Disorders: Complexities of Two Genomes -- Biochemical Analyses of the Electron Transport Chain Complexes by Spectrophotometry -- Measurement of Mitochondrial Oxygen Consumption Using A Clark Electrode -- Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis -- Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity -- Assessment of Thymidine Phosphorylase Function: Measurement of Plasma Thymidine (and Deoxyuridine) and Thymidine Phosphosphorylase Activity -- Measurement of Mitochondrial dNTP Pools -- Measurement of Oxidized and Reduced Coenzyme Q in Biological Fluids, Cells, and Tissues: An HPLC-EC Method -- Assay to Measure Oxidized and Reduced Forms of CoQ by LC-MS/MS -- Morphological Assessment of Mitochondrial Respiratory Chain Function on Tissue Sections -- Blue Native Polyacrylamide Gel Electrophoresis: A Powerful Diagnostic Tool for the Detection of Assembly Defects in the Enzyme Complexes of Oxidative Phosphorylation -- Radioactive Labeling of Mitochondrial Translation Products in Cultured Cells -- Transmitochondrial Cybrids: Tools for Functional Studies of Mutant Mitochondria -- Fluorescence-Activated Cell Sorting Analysis of Mitochondrial Content, Membrane Potential, and Matrix Oxidant Burden in Human Lymphoblastoid Cell Lines -- Molecular Profiling of Mitochondrial Dysfunction in Caenorhabditis elegans -- Analysis of Common Mitochondrial DNA Mutations by Allele-Specific Oligonucleotide and Southern Blot Hybridization -- Sequence Analysis of the Whole Mitochondrial Genome and Nuclear Genes Causing Mitochondrial Disorders -- Utility of Array CGH in Molecular Diagnosis of Mitochondrial Disorders -- Quantification of mtDNA Mutation Heteroplasmy (ARMS qPCR) -- Measurement of Mitochondrial DNA Copy Number -- Determination of the Clinical Significance of an Unclassified Variant.
520			_aDue to the complexity of the mitochondrial system and the myriad genes involved in their function, the clinical manifestations of mitochondrial diseases are remarkably variable and heterogeneous. The laboratory and clinical methodologies used to evaluate dysfunction may vary widely, and thusly a systematic presentation of the numerous protocols that are applied to the assessment of these clinically and genetically heterogeneous disorders has proven to be essential.  Mitochondrial Disorders: Biochemical and Molecular Analysis strives to fill this need with a collection of key protocols provided by leading experts in the field.  Beginning with overviews of complexity of mitochondrial and nuclear genome disorders, the book continues with a section devoted to current biochemical protocols and a part focused on the DNA-based approaches used to identify molecular defects.  Written in the highly successful Methods in Molecular Biology™ series format, chapters contain introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls.   Detailed and authoritative, Mitochondrial Disorders: Biochemical and Molecular Analysis serves as a vital guide to researchers seeking to understand this incredibly complicated type of breakdown in cellular biology.
988			_aSpringer_Protocols_2012
650		7	_2embne _9414723 _aPatología mitocondrial _xManuales de laboratorio
776	0	8	_iPrinted edition: _z9781617795039
776	0	8	_iPrinted edition: _z9781617795053
776	0	8	_iPrinted edition: _z9781493959501
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-1-61779-504-6 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
942			_2lcc _cLE
998			_b05/2023 _dz _eu _zSI