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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1985 | 1 |
1988 | 1 |
1989 | 1 |
2024 | 0 |
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Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Am J Hum Genet. 1989 Aug;45(2):325-31.
Am J Hum Genet. 1989.
PMID: 2502918
Free PMC article.
Common characteristics of mutant adenine phosphoribosyltransferases from four separate Japanese families with 2,8-dihydroxyadenine urolithiasis associated with partial enzyme deficiencies.
Fujimori S, Akaoka I, Sakamoto K, Yamanaka H, Nishioka K, Kamatani N.
Fujimori S, et al.
Hum Genet. 1985;71(2):171-6. doi: 10.1007/BF00283377.
Hum Genet. 1985.
PMID: 3876264
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Human adenine phosphoribosyltransferase deficiency. Demonstration of a single mutant allele common to the Japanese.
Hidaka Y, Tarlé SA, Fujimori S, Kamatani N, Kelley WN, Palella TD.
Hidaka Y, et al.
J Clin Invest. 1988 Mar;81(3):945-50. doi: 10.1172/JCI113408.
J Clin Invest. 1988.
PMID: 3343350
Free PMC article.
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