No abstract available
MeSH terms
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Adolescent
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Amino Acid Substitution*
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Argentina
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Biopsy
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Codon / genetics*
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Exons
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Female
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Heterozygote
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Humans
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Male
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Membrane Proteins / genetics*
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Mutation, Missense*
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Neuronal Ceroid-Lipofuscinoses / ethnology
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Neuronal Ceroid-Lipofuscinoses / genetics*
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Phenotype
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Point Mutation
Substances
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CLN6 protein, human
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Codon
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Membrane Proteins