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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Detaylı Bibliyografya
Yayımlandı:G3 (Bethesda)
Asıl Yazarlar: Wiedmer, Michaela, Oevermann, Anna, Borer-Germann, Stephanie E., Gorgas, Daniela, Shelton, G. Diane, Drögemüller, Michaela, Jagannathan, Vidhya, Henke, Diana, Leeb, Tosso
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Genetics Society of America 2015
Konular:
Investigations
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4751546/
https://ncbi.nlm.nih.gov/pubmed/26596647
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1534/g3.115.022707
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