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Adolescent
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human
male
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Adult
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Middle Aged
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adolescent
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female
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Argentina
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adult
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genetics
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middle aged
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child
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heterozygosity
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metabolism
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Mutation, Missense
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Polymerase Chain Reaction
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biosynthesis
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chemical analysis
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exon
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gene deletion
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genetic analysis
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heterozygote detection
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major clinical study
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missense mutation
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molecular biology
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