No abstract available
MeSH terms
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Amino Acid Transport Systems, Basic / genetics
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Amino Acid Transport Systems, Neutral / genetics
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Chromosome Deletion*
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Cystinuria / genetics*
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Homozygote
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Humans
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Muscle Hypotonia / genetics*
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Phenotype
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Prolyl Oligopeptidases
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Serine Endopeptidases / genetics
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Syndrome
Substances
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Amino Acid Transport Systems, Basic
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Amino Acid Transport Systems, Neutral
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SLC3A1 protein, human
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Serine Endopeptidases
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PREPL protein, human
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Prolyl Oligopeptidases