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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Carbohydrate Epimerases / genetics*
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Chromosomes, Human, Pair 9 / genetics
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Escherichia coli Proteins*
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Exons / genetics
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Genes, Recessive
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Humans
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Italy
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Muscle, Skeletal / enzymology
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Muscle, Skeletal / pathology
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Mutation / genetics*
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Mutation / physiology
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Myositis, Inclusion Body / genetics*
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Myositis, Inclusion Body / pathology
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Pedigree
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Reverse Transcriptase Polymerase Chain Reaction
Substances
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Escherichia coli Proteins
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Carbohydrate Epimerases
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UDP acetylglucosamine-2-epimerase
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wecB protein, E coli