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03914nam a22002895i 4500 |
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978-1-59259-330-9 |
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20190618111044.0 |
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cr nn 008mamaa |
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100301s2003 xxu| s |||| 0|eng d |
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|a 9781592593309
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| 024 |
7 |
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|a 10.1385/1592593305
|2 doi
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| 040 |
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|a Sistema de Bibliotecas del Tecnológico de Costa Rica
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| 245 |
1 |
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|a Neurogenetics
|b Methods and Protocols /
|c edited by Nicholas T. Potter.
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| 250 |
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|a 1st ed. 2003.
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| 260 |
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|a Totowa, NJ :
|b Humana Press :
|b Imprint: Humana,
|c 2003.
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| 300 |
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|a XIII, 390 p.
|b online resource.
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| 336 |
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|a text
|b txt
|2 rdacontent
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| 337 |
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|a computer
|b c
|2 rdamedia
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| 338 |
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|a online resource
|b cr
|2 rdacarrier
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| 490 |
1 |
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|a Methods in Molecular Biology,
|v 217
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| 505 |
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|a Quantitative PCR -- Determination of Gene Dosage -- Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene -- Trinucleotide Repeat Detection -- Detection of FMR1 Trinucleotide Repeat Expansion Mutations Using Southern Blot and PCR Methodologies -- Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7 -- Repeat Expansion Detection (RED) and the RED Cloning Strategy -- Repeat Analysis Pooled Isolation and Detection (RAPID) Cloning of Microsatellite Expansions -- DIRECT Technologies for Molecular Cloning of Genes Containing Expanded CAG Repeats -- Antibody-Based Detection of CAG Repeat Expansion Containing Genes -- Detection of Trinucleotide Repeat Containing Genes by Matrix-Assisted Laser Desorption/Ionization (MALDI) Mass Spectrometry -- Fluorescence PCR and GeneScan® Analysis for the Detection of CAG Repeat Expansions Associated with Huntington's Disease -- Sequence-Based Mutation Detection -- Molecular Detection of Galactosemia Mutations by PCR-ELISA -- Denaturing High-Performance Liquid Chromatography and Sequence Analyses for MECP2 Mutations in Rett Syndrome -- Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Disease -- Single-Strand Conformational Polymorphism Analysis (SSCP) and Sequencing for Ion Channel Gene Mutations -- Pulse Field Gel Electrophoresis for the Detection of Facioscapulohumeral Muscular Dystrophy Gene Rearrangements -- Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD) -- Genetic Diagnosis of Charcot-Marie-Tooth Disease -- Analysis of Human Mitochondrial DNA Mutations -- Detection of Mitochondrial DNA Mutations Associated with Leber Hereditary Optic Neuropathy -- Molecular Detection of Imprinted Genes -- PCR-Based Strategies for the Diagnosis of Prader-Willi/Angelman Syndromes -- Fluorescence In Situ Hybridization (FISH) -- Fluorescence In Situ Hybridization (FISH) for Identifying the Genomic Rearrangements Associated with Three Myelinopathies -- In Vitro Expression Systems and Studies of Protein Expression and Function -- Drosophila Models of Polyglutamine Diseases -- A Comparative Gene Expression Analysis of Emery-Dreifuss Muscular Dystrophy Using a cDNA Microarray -- The COS-7 Cell In Vitro Paradigm to Study Myelin Proteolipid Protein 1 Gene Mutations -- In Vitro Expression Systems for the Huntington Protein -- Heterologous Expression of Ion Channels -- An Assay for Characterizing In Vitro the Kinetics of Polyglutamine Aggregation -- Characterization of Prion Proteins -- Detection of NF1 Mutations Utilizing the Protein Truncation Test (PTT) -- Application of the Protein Truncation Test (PTT) for the Detection of Tuberosis Sclerosis Complex Type 1 and 2 (TSC1 andTSC2) Mutations -- Development and Characterization of Antibodies that Immunoprecipitate the FMR1 Protein -- Immunological Methods for the Analysis of Protein Expression in Neuromuscular Diseases.
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| 650 |
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|a Neurosciences.
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| 650 |
1 |
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|a Neurosciences.
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| 700 |
1 |
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|a Potter, Nicholas T.
|e editor.
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| 710 |
2 |
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|a SpringerLink (Online service)
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| 773 |
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|t Springer eBooks
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| 856 |
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|u https://doi.org/10.1385/1592593305
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