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

冠军

书目名称Neurogenetics影响因子(影响力)




书目名称Neurogenetics影响因子(影响力)学科排名




书目名称Neurogenetics网络公开度




书目名称Neurogenetics网络公开度学科排名




书目名称Neurogenetics被引频次




书目名称Neurogenetics被引频次学科排名




书目名称Neurogenetics年度引用




书目名称Neurogenetics年度引用学科排名




书目名称Neurogenetics读者反馈




书目名称Neurogenetics读者反馈学科排名

鸵鸟

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 (.).

spinal-stenosis

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 (.).

安抚

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.

去才蔑视

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 (.–.).

有抱负者

Arable

Subjugate

PHON

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 . (.).

不能平静

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 (.).