Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease

Open Access

Peer-reviewed

Research Article

Stefania Zampieri,

Affiliation Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
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Ezio Bianchi,

Affiliation Department of Veterinary Medical Sciences, University of Parma, Parma, Italy
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Carlo Cantile,

Affiliation Department of Veterinary Sciences, University of Pisa, Pisa, Italy
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Roberta Saleri,

Affiliation Department of Veterinary Medical Sciences, University of Parma, Parma, Italy
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Bruno Bembi,

Affiliation Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
⨯
Andrea Dardis

* E-mail: dardis.andrea@aoud.sanita.fvg.it

Affiliation Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy
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Cats
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Insertion mutation
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Mutation
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Cholesterol
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Histology
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Amino acid analysis
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Lysosomes
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Mutation detection
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