Absence of measurable linkage between the loci for hypoxanthine-guanine phosphoribosyltransferase and deutan colorblindness.
作者信息
Emmerson B T, Thompson L, Wallace D C, Spence M A
出版信息
Am J Hum Genet. 1974 Jan;26(1):78-82.
Abstract
摘要
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Hypoxanthine-guanine phosphoribosyltransferase and deutan colour blindness: the relative positions of their loci on the X-chromosome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶与绿色盲：它们在X染色体上基因座的相对位置
Adv Exp Med Biol. 1973;41:281-3. doi: 10.1007/978-1-4684-3294-7_33.
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Hypoxanthine-guanine phosphoribosyltransferase deficiency: altered kinetic properties of a specific mutant form of the enzyme.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：该酶一种特定突变形式的动力学特性改变
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Hypoxanthine-guanine phosphoribosyl transferase deficiency. Our experience.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症。我们的经验。
Adv Exp Med Biol. 1973;41:271-9. doi: 10.1007/978-1-4684-3294-7_32.
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Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency: immunologic studies on the mutant enzyme.
Adv Exp Med Biol. 1973;41:177-85. doi: 10.1007/978-1-4684-3294-7_21.
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Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase.正常和突变型次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶在成纤维细胞中对次黄嘌呤的转运
Biochem Med. 1973 Oct;8(2):309-23. doi: 10.1016/0006-2944(73)90035-5.
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Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.莱施-奈恩综合征：正常和突变型次黄嘌呤-鸟嘌呤磷酸核糖转移酶杂合子的红细胞中缺乏突变酶。
Biochem Genet. 1972 Feb;6(1):21-6. doi: 10.1007/BF00485961.
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Properties of erythrocyte purine phosphoribosyltransferases in partial hypoxanthine-guanine phosphoribosyltransferase deficiency.部分次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏时红细胞嘌呤磷酸核糖转移酶的特性
Adv Exp Med Biol. 1973;41:211-3. doi: 10.1007/978-1-4684-3294-7_25.
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Studies on metabolic cooperation using different types of normal and hypoxanthine-guanine phosphoribosyltransferase (HG-PRT) deficient cells.
Adv Exp Med Biol. 1973;41:237-43. doi: 10.1007/978-1-4684-3294-7_29.
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Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency.
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Identification of a single nucleotide substitution in the coding sequence of in vitro amplified cDNA from a patient with partial HPRT deficiency (HPRTBRISBANE).
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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.
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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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Genetical linkage between the loci for glucose-6-phosphate dehydrogenase deficiency and colour-blindness in American Negroes.美国黑人中葡萄糖-6-磷酸脱氢酶缺乏症基因座与色盲基因座之间的遗传连锁
Ann Hum Genet. 1962 Nov;26:107-22. doi: 10.1111/j.1469-1809.1962.tb01316.x.
4
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.
5
Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells.利用培养的人类细胞对次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症和莱施-奈恩综合征进行的遗传学研究。
Fed Proc. 1971 May-Jun;30(3):944-55.
6
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症与Xg血型
Am J Hum Genet. 1970 Jan;22(1):50-4.
7
Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.莱施-奈恩综合征杂合子红细胞中葡萄糖-6-磷酸脱氢酶的半合子表达。
Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8. doi: 10.1073/pnas.65.1.214.
8
Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: intermediate enzyme deficiency in heterozygote red cells.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶部分缺乏：杂合子红细胞中的中间酶缺乏
Ann Intern Med. 1972 Feb;76(2):285-7. doi: 10.7326/0003-4819-76-2-285.
9
Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout.痛风中的次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症
Ann Intern Med. 1969 Jan;70(1):155-206. doi: 10.7326/0003-4819-70-1-155.
10
The spectrum of hypoxanthine-guanine phosphoribosyltransferase deficiency.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症的谱系
Q J Med. 1973 Apr;42(166):423-40.
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