No abstract available
MeSH terms
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DNA Mutational Analysis / standards
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Diagnosis, Differential
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Diagnostic Errors / prevention & control*
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Diagnostic Errors / statistics & numerical data
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Dystrophin / genetics
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Genetic Predisposition to Disease / genetics*
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Genetic Testing / standards
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Humans
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Dystrophies, Limb-Girdle / diagnosis
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Muscular Dystrophies, Limb-Girdle / genetics
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Muscular Dystrophies, Limb-Girdle / physiopathology
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Muscular Dystrophy, Duchenne / diagnosis*
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Muscular Dystrophy, Duchenne / genetics*
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Muscular Dystrophy, Duchenne / physiopathology
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Mutation / genetics
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Pentosyltransferases
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Phenotype
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Proteins / genetics
Substances
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Dystrophin
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Proteins
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FKRP protein, human
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Pentosyltransferases