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.
Abstract
摘要
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Trans Am Clin Climatol Assoc. 1983;94:91-9.
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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。
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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.
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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.
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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
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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.
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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.
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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.
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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.
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Proc Natl Acad Sci U S A. 1982 Mar;79(6):1950-4. doi: 10.1073/pnas.79.6.1950.
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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.
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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。
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