Neurogenetics (Record no. 6798)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 05802nam a22004575i 4500 |
| 001 - CONTROL NUMBER | |
| control field | 978-1-59259-330-9 |
| 003 - CONTROL NUMBER IDENTIFIER | |
| control field | DE-He213 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20260610083653.0 |
| 007 - PHYSICAL DESCRIPTION FIXED FIELD--GENERAL INFORMATION | |
| fixed length control field | cr nn 008mamaa |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 100301s2003 xxu| s |||| 0|eng d |
| 020 ## - INTERNATIONAL STANDARD BOOK NUMBER | |
| International Standard Book Number | 9781592593309 |
| -- | 978-1-59259-330-9 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1385/1592593305 |
| Source of number or code | doi |
| 050 #4 - LIBRARY OF CONGRESS CALL NUMBER | |
| Classification number | RC321-580 |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAN |
| Source | bicssc |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | SCI089000 |
| Source | bisacsh |
| 072 #7 - SUBJECT CATEGORY CODE | |
| Subject category code | PSAN |
| Source | thema |
| 082 04 - DEWEY DECIMAL CLASSIFICATION NUMBER | |
| Classification number | 612.8 |
| Edition information | 23 |
| 245 10 - TITLE STATEMENT | |
| Title | Neurogenetics |
| Medium | [electronic resource] : |
| Remainder of title | Methods and Protocols / |
| Statement of responsibility, etc. | edited by Nicholas T. Potter. |
| 250 ## - EDITION STATEMENT | |
| Edition statement | 1st ed. 2003. |
| 264 #1 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Place of production, publication, distribution, manufacture | Totowa, NJ : |
| Name of producer, publisher, distributor, manufacturer | Humana Press : |
| -- | Imprint: Humana, |
| Date of production, publication, distribution, manufacture, or copyright notice | 2003. |
| 300 ## - online resource | |
| Extent | XIII, 390 p. |
| Other physical details | online resource. |
| 336 ## - CONTENT TYPE | |
| Content type term | text |
| Content type code | txt |
| Source | rdacontent |
| 337 ## - MEDIA TYPE | |
| Media type term | computer |
| Media type code | c |
| Source | rdamedia |
| 338 ## - CARRIER TYPE | |
| Carrier type term | online resource |
| Carrier type code | cr |
| Source | rdacarrier |
| 347 ## - DIGITAL FILE CHARACTERISTICS | |
| File type | text file |
| Encoding format | |
| Source | rda |
| 490 1# - SERIES STATEMENT | |
| Series statement | Methods in Molecular Biology, |
| International Standard Serial Number | 1940-6029 ; |
| Volume/sequential designation | 217 |
| 505 0# - FORMATTED CONTENTS NOTE | |
| Formatted contents note | 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 ofPrader-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. |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | The rapid identification and characterization of neurologically relevant genes holds great potential for understanding not only the pathophysiologic mechanisms of neurological diseases, but also for improving their diagnosis and management. In Neurogenetics: Methods and Protocols, an international panel of recognized academic physicians, researchers, and clinical laboratory diagnosticians describe their best methods for characterizing these genes, their mutations, and their proteins. Providing detailed step-by-step instructions to ensure 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. Each method has been thoroughly tested and includes notes on troubleshooting and avoiding pitfalls. Comprehensive and timely, Neurogenetics: Methods and Protocols offers academic neurologists and clinical laboratory diagnosticians an authoritative collection of readily reproducible techniques that can greatly assist with the diagnosis, management, and understanding of the pathophysiologic mechanisms of neurological diseases. |
| 650 #0 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurosciences. |
| 650 14 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neuroscience. |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Potter, Nicholas T. |
| Relator term | editor. |
| Relationship | edt |
| -- | http://id.loc.gov/vocabulary/relators/edt |
| 710 2# - ADDED ENTRY--CORPORATE NAME | |
| Corporate name or jurisdiction name as entry element | SpringerLink (Online service) |
| 773 0# - HOST ITEM ENTRY | |
| Title | Springer Nature eBook |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9780896039902 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9781617372902 |
| 776 08 - ADDITIONAL PHYSICAL FORM ENTRY | |
| Relationship information | Printed edition: |
| International Standard Book Number | 9781489938077 |
| 830 #0 - SERIES ADDED ENTRY--UNIFORM TITLE | |
| Uniform title | Methods in Molecular Biology, |
| International Standard Serial Number | 1940-6029 ; |
| Volume/sequential designation | 217 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1385/1592593305">https://doi.org/10.1385/1592593305</a> |
| 912 ## - | |
| -- | ZDB-2-PRO |
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