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
Publicado en:Mol Genet Metab
Main Authors: Schmutz, Isabelle, Jagannathan, Vidhya, Bartenschlager, Florian, Stein, Veronika M., Gruber, Achim D., Leeb, Tosso, Katz, Martin L.
Formato: Artigo
Idioma:Inglês
Publicado: 2019
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6548654/
https://ncbi.nlm.nih.gov/pubmed/30956123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.11.015
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