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Titlebook: Neurogenetics; Methods and Protocol Nicholas T. Potter Book 2003 Humana Press 2003

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發(fā)表于 2025-3-21 16:55:27 | 只看該作者 |倒序?yàn)g覽 |閱讀模式
書目名稱Neurogenetics
副標(biāo)題Methods and Protocol
編輯Nicholas T. Potter
視頻videohttp://file.papertrans.cn/665/664057/664057.mp4
概述Includes supplementary material:
叢書名稱Methods in Molecular Biology
圖書封面Titlebook: Neurogenetics; Methods and Protocol Nicholas T. Potter Book 2003 Humana Press 2003
描述The rapid identification and characterization of genes of neurological relevance holds great potential for offering insight into the diagnosis, management, and und- standing of the pathophysiologic mechanisms of neurological diseases. This volume in the Methods in Molecular Biology? series was conceived to highlight many of the contemporary methodological approaches utilized for the characterization of neu- logically relevant gene mutations and their protein products. Although an emphasis has been placed upon descriptions of methodologies with a defined clinical utility, it is hoped that Neurogenetics: Methods and Protocols will appeal not only to clinical laboratory diagnosticians, but also to clinicians, and to biomedical researchers with an interest in advances in disease diagnosis and the functional consequences of neu- logically relevant gene mutations. To meet this challenge, more than 60 authors graciously accepted my invitation to contribute to the 32 chapters of this book. Through their collective commitment and diligence, what has emerged is a comprehensive and timely treatise that covers many methodological aspects of mutation detection and screening, including disc- sio
出版日期Book 2003
版次1
doihttps://doi.org/10.1385/1592593305
isbn_softcover978-1-61737-290-2
isbn_ebook978-1-59259-330-9Series ISSN 1064-3745 Series E-ISSN 1940-6029
issn_series 1064-3745
copyrightHumana Press 2003
The information of publication is updating

書目名稱Neurogenetics影響因子(影響力)




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Molecular Detection of Galactosemia Mutations by PCR-ELISAalactose is the main treatment. However, this does not prevent secondary complications such as growth retardation, mental retardation, dyspraxia, cataracts, ataxia, and ovarian failure later in life (.).
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Multiplexed Fluorescence Analysis for Mutations Causing Tay-Sachs Diseaseuals since the 1970s, which has greatly reduced the number of affected children in this population. The standard method of carrier testing is by biochemical analysis for reduced Hex A activity in serum (.).
地板
發(fā)表于 2025-3-22 05:19:23 | 只看該作者
Determination of Gene Dosagethe carrier state, for disorders such as Duchenne muscular dystrophy and spinal muscular atrophy, the accurate determination of heterozygous deletions is essential. This chapter will describe two methods for the determination of gene dosage, using Duchenne muscular dystrophy and spinal muscular atrophy as examples.
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Extreme Expansion Detection in Spinocerebellar Ataxia Type 2 and Type 7plification of the repeat region, separation of PCR products by gel electrophoresis or capillary electrophoresis, and visualization of products by incorporation of radioactivity or dye into PCR products or staining with dye after product separation (.–.).
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Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophyd the remaining 30% are mutations that are very difficult to identify by current diagnostic screening strategies (.–.). The great majority of deletions can be detected by polymerase chain reaction . multiplex approach (.,.) or Southern blot analysis probed with dystrophin . (.).
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發(fā)表于 2025-3-23 09:29:05 | 只看該作者
Fluorescence PCR and GeneScan? Analysis for the Detection of CAG Repeat Expansions Associated with Honal specific death predominantly within the neostratum (.). Huntington is widely expressed in both the brain and nonneural tissues (.) and interestingly, N-terminal fragments of huntingtin, containing the elongated polyglutamine residues form aggregates, and can be visualized as cytoplasmic and nuclear inclusions (.).
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