Molecular analysis of dihydropteridine reductase deficiency and restoration of the enzyme activity by gene transfer.

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作者信息

Mikami H, Matsubara Y, Hayasaka K, Narisawa K, Obinata M, Watanabe A, Haginoya K, Miyabayashi S, Tada K, Dahl H H

机构信息

Department of Biochemical Genetics, Tohoku University School of Medicine, Sendai, Japan.

出版信息

J Inherit Metab Dis. 1990;13(5):787-91. doi: 10.1007/BF01799589.

DOI:10.1007/BF01799589

PMID:2174091

Abstract

摘要

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本文引用的文献

Tohoku J Exp Med. 1980 Oct;132(2):123-31. doi: 10.1620/tjem.132.123.

Dihydropteridine reductase deficiency: diagnosis by leukocyte enzyme assay.二氢蝶啶还原酶缺乏症：通过白细胞酶测定进行诊断。

Clin Chim Acta. 1980 Aug 19;105(3):335-42. doi: 10.1016/0009-8981(80)90113-8.

Human dihydropteridine reductase: characterisation of a cDNA clone and its use in analysis of patients with dihydropteridine reductase deficiency.人类二氢蝶啶还原酶：一个cDNA克隆的特征及其在二氢蝶啶还原酶缺乏症患者分析中的应用

Nucleic Acids Res. 1987 Mar 11;15(5):1921-32. doi: 10.1093/nar/15.5.1921.

Lipofection: a highly efficient, lipid-mediated DNA-transfection procedure.脂质体转染法：一种高效的、脂质介导的DNA转染程序。

Proc Natl Acad Sci U S A. 1987 Nov;84(21):7413-7. doi: 10.1073/pnas.84.21.7413.

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease.从富含核糖核酸酶的来源中分离生物活性核糖核酸。

Biochemistry. 1979 Nov 27;18(24):5294-9. doi: 10.1021/bi00591a005.

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.染色体变异中人类Y染色体特异性重复DNA的分析。

Proc Natl Acad Sci U S A. 1977 Mar;74(3):1245-9. doi: 10.1073/pnas.74.3.1245.

Malignant hyperphenylalaninaemia--current status (June 1977).恶性高苯丙氨酸血症——当前状况（1977年6月）

J Inherit Metab Dis. 1978;1(2):49-53. doi: 10.1007/BF01801843.

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