Genetic diagnosis of Duchenne and Becker muscular dystrophy using next-generation sequencing technology: comprehensive mutational search in a single platform

BackgroundDuchenne muscular dystrophy or Becker muscular dystrophy might be a suitable candidate disease for application of next-generation sequencing in the genetic diagnosis because the complex mutational spectrum and the large size of the dystrophin gene require two or more analytical methods and...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of medical genetics 2011-11, Vol.48 (11), p.731-736
Hauptverfasser:	Lim, Byung Chan, Lee, Seungbok, Shin, Jong-Yeon, Kim, Jong-Il, Hwang, Hee, Kim, Ki Joong, Hwang, Yong Seung, Seo, Jeong-Sun, Chae, Jong Hee
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Base Sequence Becker muscular dystrophy Biological and medical sciences Biopsy Child Child, Preschool Disease Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis - methods Duchenne muscular dystrophy Dystrophin - genetics epilepsy and seizures Exons Fundamental and applied biological sciences. Psychology Gene Duplication General aspects. Genetic counseling Genes genetic diagnosis Genetic testing genetics Genetics of eukaryotes. Biological and molecular evolution Genotype Humans Laboratories Male Medical genetics Medical sciences Molecular and cellular biology Muscular dystrophy Muscular Dystrophy, Duchenne - diagnosis Muscular Dystrophy, Duchenne - genetics Mutation Neurology next-generation sequencing Phenotype Sequence Analysis, DNA - methods Sequence Deletion Wheelchairs Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!