Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.
作者信息
Francke U, Bakay B, Connor J D, Coldwell J G, Nyhan W L
出版信息
Am J Hum Genet. 1974 Jul;26(4):512-22.
Abstract
摘要
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Science. 1964 Aug 14;145(3633):709-10. doi: 10.1126/science.145.3633.709.
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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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DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.葡萄糖-6-磷酸脱氢酶变异体杂合子的人类女性中两种细胞群体的证明。
Proc Natl Acad Sci U S A. 1963 Sep;50(3):481-5. doi: 10.1073/pnas.50.3.481.
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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.
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
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症患者淋巴细胞中不存在嵌合体现象。
Life Sci. 1968 Jun 15;7(12):587-91. doi: 10.1016/0024-3205(68)90079-9.
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The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.通过圆盘凝胶电泳分离腺嘌呤和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶同工酶。
Biochem Genet. 1971 Feb;5(1):81-90. doi: 10.1007/BF00485733.
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Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.莱施-奈恩综合征：利用毛囊快速检测杂合子。
Science. 1971 May 7;172(3983):572-4. doi: 10.1126/science.172.3983.572.
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X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.X连锁次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：通过选择培养基检测杂合子
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