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Volumn 431, Issue , 1998, Pages 135-139

The origin of APRT*J: The most common disease-related mutation of APRT gene among Japanese goes back to a prehistoric era

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; DNA; PRIMER DNA;

EID: 0031596780     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4615-5381-6_26     Document Type: Conference Paper
Times cited : (1)

References (12)
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    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds) McGraw-Hill, New York
    • Simmonds HA, Sahota AS, Van Acker KJ (1995) Adenine phosphoribosyltransferase deficiency and 28-dihydroxyadenine lithiasis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) Metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, pp 1799-1837
    • (1995) Metabolic and Molecular Basis of Inherited Disease, 7th Ed. , pp. 1799-1837
    • Simmonds, H.A.1    Sahota, A.S.2    Van Acker, K.J.3
  • 3
    • 0026637076 scopus 로고
    • Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients
    • Kamatani N, Hakoda M, Otsuka S, Yoshikawa H, Kashiwazaki S (1992) Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients. J Clin Invest 90: 131-136
    • (1992) J Clin Invest , vol.90 , pp. 131-136
    • Kamatani, N.1    Hakoda, M.2    Otsuka, S.3    Yoshikawa, H.4    Kashiwazaki, S.5
  • 4
    • 0023856891 scopus 로고
    • Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese
    • Hidaka Y, Tarle SA, Fujimori S, Kamatani N, Kelley WN, Palella TD (1988) Human adenine phosphoribosyltransferase deficiency: Demonstration of a single mutant allele common to the Japanese. J Clin Invest 81: 945-950
    • (1988) J Clin Invest , vol.81 , pp. 945-950
    • Hidaka, Y.1    Tarle, S.A.2    Fujimori, S.3    Kamatani, N.4    Kelley, W.N.5    Palella, T.D.6
  • 5
    • 0029805692 scopus 로고
    • The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era
    • Kamatani N, Terai C, Kim SY, Chen C-L, Yamanaka H, Hakoda M, Totokawa S, kashiwazaki S (1988) The origin of the most common mutation of adenine phosphoribosyltransferase among Japanese goes back to a prehistoric era. Hum Genet 98: 596-600
    • (1988) Hum Genet , vol.98 , pp. 596-600
    • Kamatani, N.1    Terai, C.2    Kim, S.Y.3    Chen, C.-L.4    Yamanaka, H.5    Hakoda, M.6    Totokawa, S.7    Kashiwazaki, S.8
  • 7
    • 0029586141 scopus 로고
    • Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: Cellular and molecular confirmation
    • Terai C, Hakoda M, Yamanaka H, Kamatani N, Okai M, Takahashi F, Kashiwazaki S (1995) Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. Clin Genet 48: 246-250
    • (1995) Clin Genet , vol.48 , pp. 246-250
    • Terai, C.1    Hakoda, M.2    Yamanaka, H.3    Kamatani, N.4    Okai, M.5    Takahashi, F.6    Kashiwazaki, S.7
  • 8
    • 0025045872 scopus 로고
    • Crossovers within a short DNA sequence indicate a long evolutionary history of APRT*J mutation
    • Kamatani N, Kuroshima S, Hakoda M, Palella TD, Hidaka Y (1990) Crossovers within a short DNA sequence indicate a long evolutionary history of APRT*J mutation. Hum Genet 85: 600-604
    • (1990) Hum Genet , vol.85 , pp. 600-604
    • Kamatani, N.1    Kuroshima, S.2    Hakoda, M.3    Palella, T.D.4    Hidaka, Y.5
  • 10
    • 0028960407 scopus 로고
    • Y chromosomal DNA variation and the peopling of Japan
    • Hammer MF, Horai S (1995) Y chromosomal DNA variation and the peopling of Japan. Am J Hum Genet 56: 951-962
    • (1995) Am J Hum Genet , vol.56 , pp. 951-962
    • Hammer, M.F.1    Horai, S.2
  • 11
    • 0024242948 scopus 로고
    • Distribution of the patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan
    • Kamatani N, Sonoda T, Nishioka K (1988) Distribution of the patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan. J Urol 140:1470-1472
    • (1988) J Urol , vol.140 , pp. 1470-1472
    • Kamatani, N.1    Sonoda, T.2    Nishioka, K.3
  • 12
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    • Hakoda M, Yamanaka H, Kamatani N, Kamatani N (1991) Diagnosis of heterozygous states for adenine phosphoribosyltransferase deficiency based on detection of in vivo somatic mutants in blood T cells: Application to screening of heterozygotes. Am J Hum Genet 48: 522-562
    • (1991) Am J Hum Genet , vol.48 , pp. 522-562
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.