A Streamlined Protocol for Molecular Testing of the DMD Gene within a Diagnostic Laboratory: A Combination of Array Comparative Genomic Hybridization and Bidirectional Sequence Analysis

Purpose. The aim of this study was to develop a streamlined mutation screening protocol for the DMD gene in order to confirm a clinical diagnosis of Duchenne or Becker muscular dystrophy in affected males and to clarify the carrier status of female family members. Methods. Sequence analysis and arra...

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Detalles Bibliográficos
Autores principales: Marquis-Nicholson, Renate, Lai, Daniel, Lan, Chuan-Ching, Love, Jennifer M., Love, Donald R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583148/
https://www.ncbi.nlm.nih.gov/pubmed/23476807
http://dx.doi.org/10.1155/2013/908317

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583148/
https://www.ncbi.nlm.nih.gov/pubmed/23476807
http://dx.doi.org/10.1155/2013/908317

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