No abstract available
MeSH terms
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Aged
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Genes, X-Linked*
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Humans
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Male
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Mutation, Missense
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Point Mutation
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Syndrome
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Ubiquitin-Activating Enzymes / genetics*
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Vacuoles / genetics
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Vacuoles / pathology
Substances
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UBA1 protein, human
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Ubiquitin-Activating Enzymes