Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy

Dystrophin is a key cytoskeletal protein coded by the Duchenne muscular dystrophy (DMD) gene located on the X-chromosome. Truncating mutations in the DMD gene cause loss of dystrophin and the classical DMD clinical syndrome. Spontaneous DMD gene mutations and associated phenotypes occur in several o...

Descripción completa

Detalles Bibliográficos
Autores principales: Nghiem, Peter P., Bello, Luca, Balog-Alvarez, Cindy, López, Sara Mata, Bettis, Amanda, Barnett, Heather, Hernandez, Briana, Schatzberg, Scott J., Piercy, Richard J., Kornegay, Joe N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371640/
https://www.ncbi.nlm.nih.gov/pubmed/28028563
http://dx.doi.org/10.1007/s00335-016-9675-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5371640/
https://www.ncbi.nlm.nih.gov/pubmed/28028563
http://dx.doi.org/10.1007/s00335-016-9675-2

Ejemplares similares