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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...

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Dettagli Bibliografici
Pubblicato in:Mamm Genome
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer US 2016
Soggetti:
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5371640/
https://ncbi.nlm.nih.gov/pubmed/28028563
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00335-016-9675-2
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