Studies on human triosephosphate isomerase. 3. Characterization of the enzyme from patients with the cri du chat syndrome.
作者信息
Hendrickson R J, Snapka R M, Sawyer T H, Gracy R W
出版信息
Am J Hum Genet. 1973 Jul;25(4):433-8.
Abstract
摘要
相似文献
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Probable localization of a triosephosphate isomerase gene to the short arm of the number 5 human chromosome.磷酸丙糖异构酶基因可能定位于人类第5号染色体短臂。
Nature. 1969 Oct 25;224(5217):367-8. doi: 10.1038/224367a0.
3
Red-cell triosephosphate isomerase and chromosome 5.红细胞磷酸丙糖异构酶与5号染色体
Lancet. 1970 Jul 4;2(7662):45-6. doi: 10.1016/s0140-6736(70)92510-9.
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Red-cell triosephosphate isomerase and chromosome 5.红细胞磷酸丙糖异构酶与5号染色体
Lancet. 1970 Nov 28;2(7683):1136-7. doi: 10.1016/s0140-6736(70)92332-9.
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Red-cell triosephosphate isomerase and chromosome 5.红细胞磷酸丙糖异构酶与5号染色体
Lancet. 1970 Sep 12;2(7672):570. doi: 10.1016/s0140-6736(70)91375-9.
6
[Cri-du-chat syndrome. A case report with spectral analysis of the "meowing"].[猫叫综合征。一例伴有“喵喵叫”频谱分析的病例报告]
Helv Paediatr Acta. 1967 Apr;22(1):13-21.
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Comparison of the electrophoretic properties of triosephosphate isomerases of various tissues and species.
Comp Biochem Physiol B. 1974 Dec 15;49(4):733-41. doi: 10.1016/0305-0491(74)90259-4.
8
The larynx in the cri du chat (cat cry) syndrome.猫叫综合征中的喉部情况。
Trans Am Acad Ophthalmol Otolaryngol. 1968 Jan-Feb;72(1):90-102.
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The cri du chat syndrome: neuropathologic observations.猫叫综合征：神经病理学观察
J Ment Defic Res. 1967 Dec;11(4):267-77. doi: 10.1111/j.1365-2788.1967.tb00230.x.
10
Studies on human triosephosphate isomerase. II. Nature of the electrophoretic multiplicity in erythrocytes.人类磷酸丙糖异构酶的研究。II. 红细胞中电泳多态性的性质。
J Biol Chem. 1972 Oct 25;247(20):6499-505.
引用本文的文献
1
The Cri du Chat syndrome: epidemiology, cytogenetics, and clinical features.猫叫综合征：流行病学、细胞遗传学及临床特征
Hum Genet. 1978 Nov 16;44(3):227-75. doi: 10.1007/BF00394291.
本文引用的文献
1
HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY.遗传性溶血性贫血伴磷酸丙糖异构酶缺乏症
N Engl J Med. 1965 Feb 4;272:229-35. doi: 10.1056/NEJM196502042720503.
2
[3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME].[5号染色体短臂部分缺失3例]
C R Hebd Seances Acad Sci. 1963 Nov 18;257:3098-102.
3
Computer programmes for processing enzyme kinetic data.用于处理酶动力学数据的计算机程序。
Nature. 1963 May 4;198:463-5. doi: 10.1038/198463a0.
4
Statistical estimations in enzyme kinetics.酶动力学中的统计估计
Biochem J. 1961 Aug;80(2):324-32. doi: 10.1042/bj0800324.
5
Electrophoretic abnormality in triosephosphate isomerase deficiency.磷酸丙糖异构酶缺乏症中的电泳异常。
Biochem Biophys Res Commun. 1968 Jun 10;31(5):768-73. doi: 10.1016/0006-291x(68)90628-1.
6
Triosephosphate isomerase gene not localized on the short arm of chromosome 5 in man.磷酸丙糖异构酶基因在人类中并不定位于5号染色体短臂上。
Nature. 1970 Dec 26;228(5278):1320-1. doi: 10.1038/2281320a0.
7
Probable localization of a triosephosphate isomerase gene to the short arm of the number 5 human chromosome.磷酸丙糖异构酶基因可能定位于人类第5号染色体短臂。
Nature. 1969 Oct 25;224(5217):367-8. doi: 10.1038/224367a0.
8
Studies on human triosephosphate isomerase. I. Isolation and properties of the enzyme from erythrocytes.
Arch Biochem Biophys. 1971 Sep;146(1):312-20. doi: 10.1016/s0003-9861(71)80069-3.
9
Allosteric properties of rabbit triosephosphate isomerase.
Life Sci II. 1971 Jul 22;10(14):831-9. doi: 10.1016/0024-3205(71)90007-5.
10
Studies on human triosephosphate isomerase. II. Nature of the electrophoretic multiplicity in erythrocytes.人类磷酸丙糖异构酶的研究。II. 红细胞中电泳多态性的性质。
J Biol Chem. 1972 Oct 25;247(20):6499-505.
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