Neurogenetics Methods and Protocols /
| Autor Corporativo: | |
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| Otros Autores: | |
| Formato: | eBook |
| Lenguaje: | English |
| Publicado: |
Totowa, NJ :
Humana Press : Imprint: Humana,
2003.
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| Edición: | 1st ed. 2003. |
| Colección: | Methods in Molecular Biology,
217 |
| Materias: | |
| Acceso en línea: | https://doi.org/10.1385/1592593305 |
Tabla de Contenidos:
- 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.