No abstract available
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Cathepsin F / genetics*
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Family Health
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Female
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Humans
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Male
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Mutation / genetics*
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Neuronal Ceroid-Lipofuscinoses / pathology
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Presenilin-1 / genetics
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Skin / pathology
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Skin / ultrastructure
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Ubiquitin C / metabolism
Substances
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PSEN1 protein, human
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Presenilin-1
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Ubiquitin C
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CTSF protein, human
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Cathepsin F