A RAB3GAP1 SINE Insertion in Alaskan Huskies with Polyneuropathy, Ocular Abnormalities, and Neuronal Vacuolation (POANV) Resembling Human Warburg Micro Syndrome 1 (WARBM1)

We observed a hereditary phenotype in Alaskan Huskies that was characterized by polyneuropathy with ocular abnormalities and neuronal vacuolation (POANV). The affected dogs developed a progressive severe ataxia, which led to euthanasia between 8 and 16 months of age. The pedigrees were consistent wi...

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Detalles Bibliográficos
Autores principales: Wiedmer, Michaela, Oevermann, Anna, Borer-Germann, Stephanie E., Gorgas, Daniela, Shelton, G. Diane, Drögemüller, Michaela, Jagannathan, Vidhya, Henke, Diana, Leeb, Tosso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Genetics Society of America 2015
Materias:
Investigations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751546/
https://www.ncbi.nlm.nih.gov/pubmed/26596647
http://dx.doi.org/10.1534/g3.115.022707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4751546/
https://www.ncbi.nlm.nih.gov/pubmed/26596647
http://dx.doi.org/10.1534/g3.115.022707

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