遗传性红细胞丙酮酸激酶缺乏症：在西班牙检测到的四种突变型PK变体的分子和功能研究 - Suppr

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超能文献

Hereditary erythrocyte pyruvate kinase deficiency: molecular and functional studies of four mutant PK variants detected in Spain.

作者信息

Marie J, Vives-Corrons J L, Kahn A, Kernemp B

出版信息

Clin Chim Acta. 1977 Dec 1;81(2):153-62. doi: 10.1016/0009-8981(77)90007-9.

DOI:10.1016/0009-8981(77)90007-9

PMID:589795

Abstract

摘要

相似文献

Hereditary erythrocyte pyruvate kinase deficiency: molecular and functional studies of four mutant PK variants detected in Spain.遗传性红细胞丙酮酸激酶缺乏症：在西班牙检测到的四种突变型PK变体的分子和功能研究

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A Spanish family with erythrocyte pyruvate kinase deficiency: contribution of various immunologic methods in the study of the mutant enzyme.一个患有红细胞丙酮酸激酶缺乏症的西班牙家庭：多种免疫学方法在突变酶研究中的作用。

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Hereditary pyruvate kinase deficiency: role of the abnormal enzyme in red cell pathophysiology.遗传性丙酮酸激酶缺乏症：异常酶在红细胞病理生理学中的作用。

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[From gene to disease; hereditary non-spherocytic hemolytic anemia caused by pyruvate kinase deficiency].[从基因到疾病；丙酮酸激酶缺乏所致遗传性非球形红细胞溶血性贫血]

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引用本文的文献

Hereditary erythrocyte pyruvate-kinase (PK) deficiency and chronic hemolytic anemia: clinical, genetic and molecular studies in six new Spanish patients.遗传性红细胞丙酮酸激酶（PK）缺乏症与慢性溶血性贫血：对6名西班牙新患者的临床、遗传及分子研究

Hum Genet. 1980;53(3):401-8. doi: 10.1007/BF00287063.

Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression.探寻突变型红细胞丙酮酸激酶变体的分子异常与其病理表现之间的关系。

Hum Genet. 1981;57(2):172-5. doi: 10.1007/BF00282016.

Molecular lesion affecting the ADP-combining site in a mutant isozyme of erythrocyte pyruvate kinase.影响红细胞丙酮酸激酶突变同工酶中ADP结合位点的分子损伤。

Proc Natl Acad Sci U S A. 1981 Aug;78(8):5175-9. doi: 10.1073/pnas.78.8.5175.

Human erythrocyte pyruvate kinase deficiency: the use of a kinetic study of mutant enzymes for the detection of heterozygotes.人类红细胞丙酮酸激酶缺乏症：利用突变酶的动力学研究检测杂合子。

Hum Genet. 1978 Feb 23;41(1):61-72. doi: 10.1007/BF00278872.

Advances in hereditary red cell enzyme anomalies.遗传性红细胞酶异常的进展

Hum Genet. 1979;50(1):1-27. doi: 10.1007/BF00295584.

G6PD Vientiane: a new glucose-6-phosphate dehydrogenase variant with increased stability.G6PD万象：一种稳定性增强的新型葡萄糖-6-磷酸脱氢酶变体

Hum Genet. 1978 Jul 12;43(1):85-9. doi: 10.1007/BF00396482.

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