Publication: Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog
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Hirz, M., Drögemüller, M., Schänzer, A., Jagannathan, V., Dietschi, E., Goebel, H. H., Hecht, W., Laubner, S., Schmidt, M. J., Steffen, F., Hilbe, M., Köhler, K., Drögemüller, C., & Herden, C. (2017). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Molecular Genetics and Metabolism, 120(3), 269–277. https://doi.org/10.1016/j.ymgme.2016.12.007
Abstract
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Neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage diseases that have been described in a variety of dog breeds, where they are caused by different mutations in different genes. However, the causative gene defect in the breed Alpenländische Dachsbracke remained unknown so far. Here we present two confirmed cases of NCL in Alpenländische Dachsbracke dogs from different litters of the same sire with a different dam harboring the same underlying novel mutation in the CLN8 gene. Case 1, a 2-year-old male Alpenländische
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- Hirz, M
- Drögemüller, M
- Schänzer, A
- Jagannathan, V
- Dietschi, E
- Goebel, H H
- Hecht, W
- Laubner, S
- Schmidt, M J
- Steffen, Frank
- Hilbe, Monika
- Köhler, K
- Drögemüller, C
- Herden, C
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Hirz, M., Drögemüller, M., Schänzer, A., Jagannathan, V., Dietschi, E., Goebel, H. H., Hecht, W., Laubner, S., Schmidt, M. J., Steffen, F., Hilbe, M., Köhler, K., Drögemüller, C., & Herden, C. (2017). Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog. Molecular Genetics and Metabolism, 120(3), 269–277. https://doi.org/10.1016/j.ymgme.2016.12.007
