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Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.

作者信息

Kelley W N, Wilson J M

出版信息

Trans Am Clin Climatol Assoc. 1983;94:91-9.

PMID:7186238
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2279576/
Abstract
摘要

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Human hypoxanthine-guanine phosphoribosyltransferase: studies of the normal and five mutant forms of the enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶：该酶正常及五种突变形式的研究
Trans Am Clin Climatol Assoc. 1983;94:91-9.
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引用本文的文献

1
A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency.次黄嘌呤-鸟嘌呤磷酸核糖转移酶（HPRT）缺乏症的分子基础综述。
Hum Genet. 1992 Nov;90(3):195-207. doi: 10.1007/BF00220062.

本文引用的文献

1
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。
Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.
2
Characterization of the subunit composition of HGPRTase from human erythrocytes and cultured fibroblasts.人红细胞和培养成纤维细胞中次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶亚基组成的表征
Biochem Genet. 1980 Feb;18(1-2):1-19. doi: 10.1007/BF00504356.
3
Human hypoxanthine-guanine phosphoribosyltransferase. Purification and characterization of mutant forms of the enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。该酶突变体形式的纯化与特性研究
J Biol Chem. 1981 Oct 25;256(20):10306-12.
4
Human hypoxanthine-guanine phosphoribosyltransferase. Complete amino acid sequence of the erythrocyte enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。红细胞酶的完整氨基酸序列。
J Biol Chem. 1982 Sep 25;257(18):10978-85.
5
Human hypoxanthine-guanine phosphoribosyltransferase. Demonstration of structural variants in lymphoblastoid cells derived from patients with a deficiency of the enzyme.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。源自该酶缺乏症患者的淋巴母细胞中结构变异体的证明。
J Clin Invest. 1982 Mar;69(3):706-15. doi: 10.1172/jci110499.
6
Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase.部分编码人次黄嘌呤磷酸核糖基转移酶的基因组克隆的分离
Proc Natl Acad Sci U S A. 1982 Aug;79(16):5038-41. doi: 10.1073/pnas.79.16.5038.
7
Partial purification and characterization of the mRNA for human thymidine kinase and hypoxanthine/guanine phosphoribosyltransferase.人胸苷激酶和次黄嘌呤/鸟嘌呤磷酸核糖转移酶mRNA的部分纯化及特性分析
Proc Natl Acad Sci U S A. 1982 Jul;79(14):4290-4. doi: 10.1073/pnas.79.14.4290.
8
Cloned cDNA sequences of the hypoxanthine/guanine phosphoribosyltransferase gene from a mouse neuroblastoma cell line found to have amplified genomic sequences.从小鼠神经母细胞瘤细胞系中克隆出次黄嘌呤/鸟嘌呤磷酸核糖转移酶基因的cDNA序列，该细胞系被发现具有扩增的基因组序列。
Proc Natl Acad Sci U S A. 1982 Mar;79(6):1950-4. doi: 10.1073/pnas.79.6.1950.
9
Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
10
X-linked recessive inheritance of a syndrome of mental retardation with hyperuricemia.一种伴有高尿酸血症的智力发育迟缓综合征的X连锁隐性遗传。
Proc Soc Exp Biol Med. 1966 Jun;122(2):609-11. doi: 10.3181/00379727-122-31204.