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Items: 1 to 20 of 164

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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.

J Clin Invest. 1988 Mar;81(3):945-50.

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. No abstract available.

PMID:
2624223
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Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).

Haefele MJ, White G, McDonald JD.

Mol Genet Metab. 2001 Jan;72(1):27-30.

PMID:
11161825
6.

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.

9.

Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease.

Hui YF, Chan SY, Lau YL.

Blood. 1996 Nov 15;88(10):4021-8. Erratum in: Blood 1997 Mar 1;89(5):1843.

10.

Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts.

Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, Di Leo E, Martini C, Federico A, Calandra S.

J Lipid Res. 2002 Nov;43(11):1908-19.

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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
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Molecular genetic analysis for the B(3) allele.

Yu LC, Twu YC, Chou ML, Chang CY, Wu CY, Lin M.

Blood. 2002 Aug 15;100(4):1490-2.

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Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency.

Buesa C, Pié J, Barceló A, Casals N, Mascaró C, Casale CH, Haro D, Duran M, Smeitink JA, Hegardt FG.

J Lipid Res. 1996 Nov;37(11):2420-32.

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