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Items: 1 to 20 of 165

1.

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.

2.

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.

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Detection of the most common mutation of adenine phosphoribosyltransferase deficiency among Japanese by a non-radioactive method.

Kawaguchi R, Higashimoto H, Hikiji K, Hakoda M, Kamatani N.

Clin Chim Acta. 1991 Dec 16;203(2-3):183-90.

PMID:
1777979
7.

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.

8.

[Adenine phosphoribosyltransferase(APRT) deficiency].

Kamatani N.

Nihon Rinsho. 1996 Dec;54(12):3321-7. Review. Japanese.

PMID:
8976113
9.

[Adenine phosphoribosyltransferase deficiency and its purine metabolism].

Taniguchi A.

Nihon Rinsho. 2008 Apr;66(4):784-8. Review. Japanese.

PMID:
18409532
11.

[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients].

Higashimoto H, Kawaguchi R, Hikiji K.

Rinsho Byori. 1992 Oct;40(10):1067-72. Japanese.

PMID:
1307610
12.

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.

PMID:
8882882
13.

Identification of genetic mutations in Japanese patients with fructose-1,6-bisphosphatase deficiency.

Kikawa Y, Inuzuka M, Jin BY, Kaji S, Koga J, Yamamoto Y, Fujisawa K, Hata I, Nakai A, Shigematsu Y, Mizunuma H, Taketo A, Mayumi M, Sudo M.

Am J Hum Genet. 1997 Oct;61(4):852-61.

15.

Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency.

Iwaki T, Kusaka T, Ohashi I, Nishida T, Imai T, Itoh S.

Pediatr Nephrol. 2010 Jun;25(6):1173-6. doi: 10.1007/s00467-009-1430-4. Epub 2010 Jan 26.

PMID:
20101413
16.

Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese.

Higashimoto H, Ouchi A, Kawaguchi R.

Clin Chim Acta. 1995 Jan 31;234(1-2):1-10.

PMID:
7758207
17.
18.

[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis].

Kaneko Y, Takeuchi H, Takenawa J, Yoshida O, Takano S, Fujita J.

Hinyokika Kiyo. 1992 Jun;38(6):641-5. Japanese.

19.

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. No abstract available.

PMID:
2624223

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