No abstract available
Publication types
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Case Reports
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Letter
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Research Support, Non-U.S. Gov't
MeSH terms
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Alleles
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Animals
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Blotting, Southern
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Cell Line
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Child
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Child, Preschool
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Chromosome Deletion*
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DNA Methylation
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Dosage Compensation, Genetic*
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Fatal Outcome
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Female
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Fibroblasts
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France
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Genes, Recessive / genetics
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Humans
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Hybrid Cells / drug effects
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Hybrid Cells / enzymology
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Hybrid Cells / metabolism
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Iduronate Sulfatase / genetics*
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Iduronate Sulfatase / metabolism
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In Situ Hybridization, Fluorescence
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Introns / genetics
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Male
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Mucopolysaccharidosis II / enzymology
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Mucopolysaccharidosis II / genetics*
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Mutation / genetics*
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Ouabain / pharmacology
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Phenotype
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Polymorphism, Genetic / genetics
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RNA, Messenger / analysis
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RNA, Messenger / genetics
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X Chromosome / genetics*
Substances
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RNA, Messenger
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Ouabain
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Iduronate Sulfatase