Muscular Dystrophy Methods and Protocols /

Podrobná bibliografie
Korporativní autor: SpringerLink (Online service)
Další autoři: Bushby, Katherine M.D (Editor), Anderson, Louise V.B (Editor)
Shrnutí:XII, 458 p.
text
Jazyk:angličtina
Vydáno: Totowa, NJ : Humana Press : Imprint: Humana, 2001.
Vydání:1st ed. 2001.
Edice:Methods in Molecular Medicine, 43
Témata:
On-line přístup:https://doi.org/10.1385/1592591388
Médium: Elektronický zdroj E-kniha
Obsah:
  • Background
  • Application of Molecular Methodologies in Muscular Dystrophies
  • Clinical Examination as a Tool for Diagnosis
  • Histopathological Diagnosis of Muscular Dystrophies
  • Serum Creatine Kinase in Progressive Muscular Dystrophies
  • The molecular approach
  • Deletion and Duplication Analysis in Males Affected with Duchenne or Becker Muscular Dystrophy
  • Point Mutation Detection in the Dystrophin Gene
  • DNA-Based Techniques for Detection of Carriers of Duchenne and Becker Muscular Dystrophy
  • Fluorescence In Situ Hybridization Analysis for Carrier Detection in Duchenne/Becker Muscular Dystrophy
  • DNA- Based Prenatal Diagnosis for Duchenne and Becker Muscular Dystrophy
  • Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy
  • Mutation Analysis of X-Linked Emery-Dreifuss Muscular Dystrophy Gene
  • Analysis of LAMA2 Gene in Merosin- Deficient Congenital Dystrophy
  • ?-Sarcoglycan Mutations
  • Mutation Detection in ?- and ?-Sarcoglycan (LGMD2E and LGMD2C)
  • Mutation Analysis in ?-Sarcoglycan (LGMD2F)
  • Molecular Diagnosis of Calpainopathies
  • Molecular Investigation of LGMD2B-Haplotype Analysis and Mutation Screening
  • Molecular Analysis of Facioscapulohumeral Muscular Dystrophy (FSHD1)
  • Protein Analysis in the Muscular Dystrophies
  • Analysis of Protein Expression in Muscular Dystrophies
  • Immunological Reagents and Amplification Systems
  • Immunocytochemical Analysis
  • Multiplex Western Blot Analysis of Muscular Dystrophy Proteins
  • Fetal Muscle Biopsy
  • Use of Animal Models to Understand Human Muscular Dystrophy
  • Options for Development of Gene-Based Therapy for Muscular Dystrophy.