ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis

The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders characterized by progressive neurodegeneration and declines in neurological functions. Pathogenic sequence variants in at least 13 genes underlie different forms of NCL, almost all of which are recessively inherited. To date 1...

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Detalles Bibliográficos
Autores principales: Schmutz, Isabelle, Jagannathan, Vidhya, Bartenschlager, Florian, Stein, Veronika M., Gruber, Achim D., Leeb, Tosso, Katz, Martin L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548654/
https://www.ncbi.nlm.nih.gov/pubmed/30956123
http://dx.doi.org/10.1016/j.ymgme.2018.11.015

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