What is it about?
Niemann-Pick type C disease is an inherited disease in humans and animals. We report the disease in cattle and describe the identification of a DNA variant that is causing this disease.
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Why is it important?
1. Cattle with Niemann-Pick type C may be an useful animal model to increase our understanding of the disease in humans. 2. Knowledge about the likely-causal DNA variant allows genetic testing in cattle.
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This page is a summary of: Molecular basis for a new bovine model of Niemann-Pick type C disease, PLOS One, September 2020, PLOS,
DOI: 10.1371/journal.pone.0238697.
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