Abstract
Five mutations in the adenine phosphoribosyltransferase (APRT) gene have been described in Japanese patients with APRT deficiency. We investigated the APRT gene from three patients with APRT deficiency and two novel mutations, G133D and V84M, were determined.
MeSH terms
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Adenine / analogs & derivatives*
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Adenine / metabolism*
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Adenine Phosphoribosyltransferase / genetics*
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Adult
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Aged
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Alleles
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DNA / metabolism
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Heterozygote
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Homozygote
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Humans
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Japan
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Male
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Middle Aged
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Mutation*
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Sequence Analysis, DNA
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Urinary Calculi / enzymology*
Substances
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2,8-dihydroxyadenine
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DNA
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Adenine Phosphoribosyltransferase
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Adenine