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Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog

BACKGROUND: A Norfolk terrier was referred to the Animal Health Trust neurology department with suspected dystrophin-deficient muscular dystrophy (DD-MD), which was confirmed by clinical workup and immunohistochemistry. FINDINGS: Exon resequencing of the canine Duchenne Muscular Dystrophy (DMD) gene...

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Detalles Bibliográficos
Autores principales: Jenkins, Christopher A, Forman, Oliver P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4579383/
https://www.ncbi.nlm.nih.gov/pubmed/26401335
http://dx.doi.org/10.1186/s40575-015-0019-4