Inheritance of purine phosphoribosyltransferases in man.
作者信息
Henderson J F, Kelley W N, Rosenbloom F M, Seegmiller J E
出版信息
Am J Hum Genet. 1969 Jan;21(1):61-70.
Abstract
摘要
相似文献
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Inheritance of purine phosphoribosyltransferases in man.人类嘌呤磷酸核糖转移酶的遗传
Am J Hum Genet. 1969 Jan;21(1):61-70.
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Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase associated with gout and uric acid lithiasis.与痛风和尿酸结石相关的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏症。
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Inheritance of hypoxanthine-guanine phosphoribosyltransferase deficiency and detection of heterozygotes.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的遗传及杂合子检测
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Hypoxanthine-guanine phosphoribosyltransferase deficiency in the Lesch-Nyhan syndrome and gout.莱施-奈恩综合征和痛风中的次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。
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Phosphoribosyltransferase (PRT) and adenine PRT (A-PRT) deficiency states in man--new inborn errors of purine metabolism.人类中的磷酸核糖基转移酶（PRT）和腺嘌呤PRT（A-PRT）缺乏状态——嘌呤代谢的新型先天性缺陷。
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症：在混合培养物和杂合子培养物中对突变型或正常培养成纤维细胞具有选择性的化学试剂。
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Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.一个次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏家族中的同工酶
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8-Azaguanine resistance in mammalian cells. I. Hypoxanthine-guanine phosphoribosyltransferase.哺乳动物细胞中的8-氮杂鸟嘌呤抗性。I. 次黄嘌呤-鸟嘌呤磷酸核糖转移酶
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本文引用的文献
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HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.年轻男性的遗传性舞蹈手足徐动症、自残行为和高尿酸血症
N Engl J Med. 1965 Jul 15;273:130-5. doi: 10.1056/NEJM196507152730303.
2
GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.带有性连锁标记的基因检测：葡萄糖-6-磷酸脱氢酶
Cold Spring Harb Symp Quant Biol. 1964;29:415-25. doi: 10.1101/sqb.1964.029.01.043.
3
Gene action in the X-chromosome of the mouse (Mus musculus L.).小鼠（小家鼠）X染色体上的基因作用。
Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.
4
Inherited disorder of purine metabolism. Correlation between central nervous system dysfunction and biochemical defects.嘌呤代谢的遗传性疾病。中枢神经系统功能障碍与生化缺陷之间的关联。
JAMA. 1967 Oct 16;202(3):175-7. doi: 10.1001/jama.202.3.175.
5
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.
6
Detection of glucose-6-phosphate dehydrogenase deficient heterozygotes.葡萄糖-6-磷酸脱氢酶缺乏杂合子的检测
Blood. 1967 Jan;29(1):87-101.
7
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.
8
Kinetic studies of mutant human erythrocyte adenine phosphoribosyltransferases.突变型人类红细胞腺嘌呤磷酸核糖基转移酶的动力学研究。
Can J Biochem. 1968 Jul;46(7):703-6. doi: 10.1139/o68-108.
9
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.X连锁次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症：杂合子有两个克隆群体。
Science. 1968 Apr 26;160(3826):425-7. doi: 10.1126/science.160.3826.425.
10
A specific enzyme defect in gout associated with overproduction of uric acid.痛风中与尿酸生成过多相关的一种特定酶缺陷。
Proc Natl Acad Sci U S A. 1967 Jun;57(6):1735-9. doi: 10.1073/pnas.57.6.1735.
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