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Article

Molecular basis for a new bovine model of Niemann-Pick type C disease.

PloS one - 1 Jan 2020

Woolley Shernae A, Tsimnadis Emily R, Lenghaus Cor, Healy Peter J, Walker Keith, Morton Andrew, Khatkar Mehar S, Elliott Annette, Kaya Ecem, Hoerner Clarisse, Priestman David A, Shepherd Dawn, Platt Frances M, Porebski Ben T, Willet Cali E, O'Rourke Brendon A, Tammen Imke

Abstract excerpt

Niemann-Pick type C disease is a lysosomal storage disease affecting primarily the nervous system that results in premature death. Here we present the first report and investigation of Niemann-Pick type C disease in Australian Angus/Angus-cross calves. After a preliminary diagnosis of Niemann-Pick type C, samples from two affected calves and two obligate carriers were analysed using single nucleotide polymorphism...

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Identifiers

PMID: 32970694
DOI: 10.1371/journal.pone.0238697
PMCID: PMC7514041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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