A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy

A novel canine muscular dystrophy in Landseer dogs was observed. We had access to five affected dogs from two litters. The clinical signs started at a few weeks of age, and the severe progressive muscle weakness led to euthanasia between 5 and 15 months of age. The pedigrees of the affected dogs sug...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:G3 (Bethesda)
Prif Awduron: Steffen, Frank, Bilzer, Thomas, Brands, Jan, Golini, Lorenzo, Jagannathan, Vidhya, Wiedmer, Michaela, Drögemüller, Michaela, Drögemüller, Cord, Leeb, Tosso
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Genetics Society of America 2015
Pynciau:
Investigations
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683634/
https://ncbi.nlm.nih.gov/pubmed/26438297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.115.021923
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