MARC Record from marc_columbia

LEADER: 09363cam a2200973Ia 4500
001 4241157
005 20220723225602.0
006 m o d
007 cr cn|||||||||
008 030616s2003 njua ob 001 0 eng d
010 $a 2002068584
035 $a(OCoLC)ocm52440541
035 $a(NNC)4241157
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020 $a9781592593309$q(electronic bk.)
020 $a1592593305$q(electronic bk.)
020 $z0896039900$q(alk. paper)
020 $z9780896039902$q(alk. paper)
020 $a1280842148
020 $a9781280842146
020 $a9786610842148
020 $a6610842140
024 7 $a10.1385/1592593305$2doi
035 $a(OCoLC)52440541$z(OCoLC)234546740$z(OCoLC)320965252$z(OCoLC)756436608$z(OCoLC)964921483$z(OCoLC)967626929$z(OCoLC)988712924$z(OCoLC)991946849$z(OCoLC)994751584$z(OCoLC)1005835310$z(OCoLC)1027489157$z(OCoLC)1035694376$z(OCoLC)1035701623$z(OCoLC)1071486449$z(OCoLC)1078841084$z(OCoLC)1078852506$z(OCoLC)1081208548$z(OCoLC)1086917897$z(OCoLC)1097158439$z(OCoLC)1129138279$z(OCoLC)1228618837
050 4 $aQP356.22$b.N485 2003eb
060 4 $aW1$bME9616J v.217 2003
060 4 $aWL 140$bN4914 2003
070 $aQH506$b.M45 v. 217
072 7 $aHEA$x039060$2bisacsh
072 7 $aMED$x107000$2bisacsh
072 0 $aX300
072 7 $aPSAN$2bicssc
082 04 $a616/.042$221
049 $aZCUA
245 00 $aNeurogenetics :$bmethods and protocols /$cedited by Nicholas T. Potter.
260 $aTotowa, N.J. :$bHumana Press,$c©2003.
300 $a1 online resource (xiii, 390 pages) :$billustrations (some color)
336 $atext$btxt$2rdacontent
337 $acomputer$bc$2rdamedia
338 $aonline resource$bcr$2rdacarrier
490 1 $aMethods in molecular biology ;$vv. 217
504 $aIncludes bibliographical references and index.
505 0 $aPart I. Quantitative PCR -- Determination of Gene Dosage : Utilization of Endogenous and Exogenous Internal Standards / Thomas W. Prior -- Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene / Christoph B. Lucking and Alexis Brice -- Part II. Trinucleotide Repeat Detection -- Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies / Jack Tarleton -- Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 / Karen Snow and Rong Mao -- Repeat Expansion Detection (RED) and the RED Cloning Strategy / Qiu-Ping Yuan, Kerstin Lindblad-Toh, and Martin Schalling -- Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions / Laura P.W. Ranum -- DIRECT Technologies for Molecular Cloning of Genes Containing : Expanded CAG Repeats / Kazuhiro Sanpei, Takeshi Ikeuchi, and Shoji Tsuji -- Antibody-Based Detection of CAG Repeat Expansion Containing Genes / Yvon Trottier -- 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 -- 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 -- Molecular Detection of Galactosemia Mutations by PCR-ELISA / Kasinathan Muralidharan and Wei Zhang -- Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome / Inge M. Buyse and Benjamin B. Roa -- Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease / Tracy L. Stockley and Peter N. Ray -- Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations / Kylie A. Scoggan and Dennis E. Bulman -- Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements / Luciano Felicetti and Giuliana Galluzzi -- Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) / Luciana C.B. Dolinsky -- Genetic Diagnosis of Charcot-Marie-Tooth Disease / Frank Baas -- Analysis of Human Mitochondrial DNA Mutations / Antonio L. Andreu, Ramon Marti, and Michio Hirano -- Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy / Kasinathan Muralidharan -- Part IV. Molecular Detection of Imprinted Genes -- PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes / Milen Velinov and Edmund C. Jenkins -- Part V. Fluorescence in Situ Hybridization (FISH) -- 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 -- Drosophila Models of Polyglutamine Diseases / H.Y. Edwin Chan and Nancy M. Bonini -- A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray / Toshifumi Tsukahara and Kiichi Arahata -- The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations / Alexander Gow -- In Vitro Expression Systems for the Huntington Protein / Shi-Hua Li and Xiao-Jiang Li -- Heterologous Expression of Ion Channels / Andrew R. Tapper and Alfred L. George, Jr. -- An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation / Valerie Berthelier and Ronald Wetzel -- Characterization of Prion Proteins / Wenquan Zou [and others] -- Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) / Meena Upadhyaya, Michael Osborn, and David N. Cooper -- Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 and TSC2) Mutations / Karin Mayer -- Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein / Stephanie Ceman [and others] -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases / Mariz Vainzof, Maria Rita Passos-Bueno, and Mayana Zatz.
588 0 $aPrint version record.
520 3 $aAn international panel of academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing neurologically relevant genes, their mutations, and their proteins. Providing detailed step-by-step instructions to assure successful experimental results, these experts cover the key methods for mutation detection and screening, including discussions of quantitative PCR, trinucleotide repeat detection, sequence-based mutation detection, fluorescence in situ hybridization (FISH), in vitro protein expression systems, and studies of protein expression and function.
546 $aEnglish.
650 0 $aNeurogenetics$vLaboratory manuals.
650 0 $aGenetic disorders$xDiagnosis$vLaboratory manuals.
650 0 $aGenetics$xTechnique.
650 12 $aNervous System Diseases$xgenetics
650 22 $aGenetic Diseases, Inborn$xdiagnosis
650 22 $aGenetic Techniques
650 22 $aGenetic Carrier Screening
650 22 $aMutation$xgenetics
650 6 $aNeurogénétique$vManuels de laboratoire.
650 6 $aMaladies génétiques$xDiagnostic$vManuels de laboratoire.
650 6 $aGénétique$xTechnique.
650 7 $aHEALTH & FITNESS$xDiseases$xGenetic.$2bisacsh
650 7 $aMEDICAL$xGenetics.$2bisacsh
650 7 $aGenetics$xTechnique.$2fast$0(OCoLC)fst00940145
650 7 $aGenetic disorders$xDiagnosis.$2fast$0(OCoLC)fst00940011
650 7 $aNeurogenetics.$2fast$0(OCoLC)fst01036353
653 00 $aneurologie
653 00 $aneurology
653 00 $agenetica
653 00 $agenetics
653 00 $apolymerase chain reaction
653 00 $adna cloning
653 00 $amutaties
653 00 $amutations
653 10 $aMolecular Biology (General)
653 20 $aGenetics (General)
653 10 $aMoleculaire biologie (algemeen)
653 20 $aGenetica (algemeen)
655 0 $aElectronic books.
655 4 $aElectronic books.
655 7 $aLaboratory manuals.$2fast$0(OCoLC)fst01920776
700 1 $aPotter, Nicholas T.
773 0 $tSpringer Protocols
776 08 $iPrint version:$tNeurogenetics.$dTotowa, N.J. : Humana Press, ©2003$z0896039900$w(DLC) 2002068584$w(OCoLC)49820862
830 0 $aMethods in molecular biology (Clifton, N.J.) ;$vv. 217.
856 40 $uhttp://www.columbia.edu/cgi-bin/cul/resolve?clio4241157$zAll EBSCO eBooks
852 8 $blweb$hEBOOKS