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_c8411 _d8411 |
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| 001 | 12775537 | ||
| 003 | OSt | ||
| 005 | 20200226163346.0 | ||
| 008 | 020515s2003 njua b 001 0 eng | ||
| 010 | _a 2002068584 | ||
| 020 | _a0896039900 (alk. paper) | ||
| 040 |
_aDLC _cDLC _dDLC |
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| 042 | _apcc | ||
| 050 | 0 | 0 |
_aQP356.22 _b.N485 2003 |
| 082 | 0 | 0 |
_a616.042 POT _221 |
| 245 | 0 | 0 |
_aNeurogenetics : _bmethods and protocols / _cedited by Nicholas T. Potter. |
| 260 |
_aTotowa, N.J. : _bHumana Press, _cc2003. |
||
| 300 |
_axiii, 390 p. : _bill. (some col.) ; _c26 cm. |
||
| 490 | 1 |
_aMethods in molecular biology ; _vv. 217 |
|
| 504 | _aIncludes bibliographical references and index. | ||
| 505 | 8 | _aMachine generated contents note: Preface -- Color Plates -- Contributors -- PART I. QUANTITATIVE PCR -- 1 Determination of Gene Dosage: -- Utilization of Endogenous and Exogenous Internal Standards -- Thomas W. Prior -- 2 Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene -- Christoph B. Lucking and Alexis Brice -- PART II. TRINUCLEOTIDE REPEAT DETECTION -- 3 Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies -- Jack Tarleton -- 4 Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 -- Karen Snow and Rong Mao -- 5 Repeat Expansion Detection (RED) and the RED Cloning Strategy -- Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling -- 6 Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions -- Laura P. W. Ranum -- 7 DIRECT Technologies for Molecular Cloning of Genes Containing -- Expanded CAG Repeats -- Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji -- 8 Antibody-Based Detection of CAG Repeat Expansion Containing Genes -- Yvon Trottier -- 9 Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/lonization (MALDI) -- Mass Spectrometry -- Chung-Hsuan Chen, Nicholas T. Potter, and Nelly T. Taranenko -- 10 Fluorescence PCR and GeneScan Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's Disease -- Cindy L. Vnencak-Jones -- PART III. SEQUENCE-BASED MUTATION DETECTION -- 11 Molecular Detection of Galactosemia Mutations by PCR-ELISA -- Kasinathan Muralidharan and Wei Zhang -- 12 Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome -- Inge M. Buyse and Benjamin B. Roa -- 13 Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease -- Tracy L. Stockley and Peter N. Ray -- 14 Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations -- Kylie A. Scoggan and Dennis E. Bulman -- 15 Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements -- Luciano Felicetti and Giuliana Galluzzi -- 16 Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) -- Luciana C. B. Dolinsky -- 17 Genetic Diagnosis of Charcot-Marie-Tooth Disease -- Frank Baas -- 18 Analysis of Human Mitochondrial DNA Mutations -- Antonio L. Andreu, Ramon Marti, and Michio Hirano -- 19 Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy -- Kasinathan Muralidharan -- PART IV. MOLECULAR DETECTION OF IMPRINTED GENES -- 20 PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes -- Milen Velinov and Edmund C. Jenkins -- PART V. FLUORESCENCE IN SITU HYBRIDIZATION (FISH) -- 21 Fluorescence In Situ Hybridization (FISH) for Identifying the Genomic Rearrangements Associated with Three Myelinopathies: -- Charcot-Marie-Tooth Disease, Hereditary Neuropathy with Liability to Pressure Palsies, and Pelizaeus-Merzbacher Disease -- Mansoor S. Mohammed and Lisa G. Shaffer -- PART VI. IN VITRO EXPRESSION SYSTEMS AND STUDIES OF PROTEIN EXPRESSION AND FUNCTION -- 22 Drosophila Models of Polyglutamine Diseases -- H. Y. Edwin Chan and Nancy M. Bonini -- 23 A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray -- Toshifumi Tsukahara and Kiichi Arahata -- 24 The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations -- Alexander Gow -- 25 In Vitro Expression Systems for the Huntington Protein -- Shi-Hua Li and Xiao-Jiang Li -- 26 Heterologous Expression of Ion Channels -- Andrew R. Tapper and Alfred L. George, Jr. -- 27 An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation -- Valerie Berthelier and Ronald Wetzel -- 28 Characterization of Prion Proteins -- Wenquan Zou, Monica Colucci, Pierluigi Gambetti, -- and Shu G. Chen -- 29 Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) -- Meena Upadhyaya, Michael Osborn, and David N. Cooper -- 30 Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations -- Karin Mayer -- 31 Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein -- Stephanie Ceman, Fuping Zhang, Tamika Johnson, -- and Stephen T. Warren -- 32 Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases -- Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz. | |
| 650 | 0 |
_aNeurogenetics _vLaboratory manuals. |
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| 650 | 0 |
_aGenetic disorders _xDiagnosis _vLaboratory manuals. |
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| 700 | 1 | _aPotter, Nicholas T. | |
| 830 | 0 |
_aMethods in molecular biology (Clifton, N.J.) ; _vv. 217. |
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| 856 | 4 | 1 |
_3Table of contents _uhttp://www.loc.gov/catdir/toc/fy033/2002068584.html |
| 856 | 4 | 2 |
_3Book review (E-STREAMS) _uhttp://www.e-streams.com/es0606/es0606_2540.html |
| 856 | 4 | 2 |
_3Publisher description _uhttp://www.loc.gov/catdir/enhancements/fy0825/2002068584-d.html |
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