182 related articles for article (PubMed ID: 3343350)
1. 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
J Clin Invest; 1988 Mar; 81(3):945-50. PubMed ID: 3343350
[TBL] [Abstract][Full Text] [Related]
2. A mutant allele common to the type I adenine phosphoribosyltransferase deficiency in Japanese subjects.
Mimori A; Hidaka Y; Wu VC; Tarlé SA; Kamatani N; Kelley WN; Pallela TD
Am J Hum Genet; 1991 Jan; 48(1):103-7. PubMed ID: 1985452
[TBL] [Abstract][Full Text] [Related]
3. Human adenine phosphoribosyltransferase (APRT) deficiency: single mutant allele common to the Japanese.
Hidaka Y; Tarle SA; Kamatani N; Kelley WN; Palella TD
Adv Exp Med Biol; 1989; 253A():43-9. PubMed ID: 2624223
[No Abstract] [Full Text] [Related]
4. 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
J Clin Invest; 1992 Jul; 90(1):130-5. PubMed ID: 1353080
[TBL] [Abstract][Full Text] [Related]
5. 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
Hum Genet; 1985; 71(2):171-6. PubMed ID: 3876264
[TBL] [Abstract][Full Text] [Related]
6. Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.
Kamatani N; Kuroshima S; Terai C; Hidaka Y; Palella TD; Nishioka K
Am J Hum Genet; 1989 Aug; 45(2):325-31. PubMed ID: 2502918
[TBL] [Abstract][Full Text] [Related]
7. Establishment and characterization of B cell lines from individuals with various types of adenine phosphoribosyltransferase deficiencies.
Nobori T; Kamatani N; Mikanagi K; Nishida Y; Nishioka K
Biochem Biophys Res Commun; 1986 Jun; 137(3):998-1005. PubMed ID: 3488062
[TBL] [Abstract][Full Text] [Related]
8. Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme.
Hidaka Y; Palella TD; O'Toole TE; Tarlé SA; Kelley WN
J Clin Invest; 1987 Nov; 80(5):1409-15. PubMed ID: 3680503
[TBL] [Abstract][Full Text] [Related]
9. [Adenine phosphoribosyltransferase deficiency and its purine metabolism].
Taniguchi A
Nihon Rinsho; 2008 Apr; 66(4):784-8. PubMed ID: 18409532
[TBL] [Abstract][Full Text] [Related]
10. Partial and complete adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis: kinetic and immunochemical properties of APRT.
Abe S; Hayasaka K; Narisawa K; Tada K; Okada G; Koyama H; Kurosu S; Kudoh M; Matsushita K
Enzyme; 1987; 37(4):182-8. PubMed ID: 2440671
[TBL] [Abstract][Full Text] [Related]
11. Selection of human cells having two different types of mutations in individual cells (genetic/artificial mutants). Application to the diagnosis of the heterozygous state for a type of adenine phosphoribosyltransferase deficiency.
Kamatani N; Kuroshima S; Terai C; Kawai K; Mikanagi K; Nishioka K
Hum Genet; 1987 Jun; 76(2):148-52. PubMed ID: 3610146
[TBL] [Abstract][Full Text] [Related]
12. Distribution of patients with 2,8-dihydroxyadenine urolithiasis and adenine phosphoribosyltransferase deficiency in Japan.
Kamatani N; Sonoda T; Nishioka K
J Urol; 1988 Dec; 140(6):1470-2. PubMed ID: 3193517
[TBL] [Abstract][Full Text] [Related]
13. A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan.
Takeuchi H; Kaneko Y; Fujita J; Yoshida O
J Urol; 1993 Apr; 149(4):824-6. PubMed ID: 8455250
[TBL] [Abstract][Full Text] [Related]
14. [Adenine phosphoribosyltransferase(APRT) deficiency].
Kamatani N
Nihon Rinsho; 1996 Dec; 54(12):3321-7. PubMed ID: 8976113
[TBL] [Abstract][Full Text] [Related]
15. [APRT deficiency in Japanese].
Hidaka Y
Nihon Rinsho; 1989 Dec; 47(12):2811-7. PubMed ID: 2575675
[No Abstract] [Full Text] [Related]
16. 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 CL; Yamanaka H; Hakoda M; Totokawa S; Kashiwazaki S
Hum Genet; 1996 Nov; 98(5):596-600. PubMed ID: 8882882
[TBL] [Abstract][Full Text] [Related]
17. Crossovers within a short DNA sequence indicate a long evolutionary history of the APRT*J mutation.
Kamatani N; Kuroshima S; Hakoda M; Palella TD; Hidaka Y
Hum Genet; 1990 Oct; 85(6):600-4. PubMed ID: 2227951
[TBL] [Abstract][Full Text] [Related]
18. Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.
Higashimoto H; Ouchi A; Kawaguchi R
Clin Chim Acta; 1995 Jan; 234(1-2):1-10. PubMed ID: 7758207
[TBL] [Abstract][Full Text] [Related]
19. Erythrocyte adenine PRPP availability in two types of APRT deficiency using silicon oil method.
Takeuchi F; Kamatani N; Nishida Y; Miyamoto T
Adv Exp Med Biol; 1989; 253A():35-41. PubMed ID: 2483030
[TBL] [Abstract][Full Text] [Related]
20. Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis.
Bye S; Mallmann R; Duley J; Simmonds HA; Chen J; Tischfield JA; Sahota A
Clin Investig; 1994 Jul; 72(7):550-3. PubMed ID: 7981585
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
