DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE.
作者信息
Sternlier I, Morell A G, Bauer C D, Combes B, De Bobes-Sternberg S, Schein-Berg I H
机构信息
Department of Medicine, Albert Einstein College of Medicine and the Bronx Municipal Hospital Center, N. Y.
出版信息
J Clin Invest. 1961 Apr;40(4):707-15. doi: 10.1172/JCI104304.
Abstract
摘要
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本文引用的文献
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Sickle cell anemia a molecular disease.镰状细胞贫血是一种分子疾病。
Science. 1949 Nov 25;110(2865):543-8. doi: 10.1126/science.110.2865.543.
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The pathogenesis and clinical significance of the liver disease in hepatolenticular degeneration (Wilson's disease).肝豆状核变性（威尔逊病）中肝脏疾病的发病机制及临床意义。
Med Clin North Am. 1960 May;44:665-79. doi: 10.1016/s0025-7125(16)34003-2.
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The liver in Wilson's disease.威尔逊氏病中的肝脏。
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Observations on ceruloplasmin in Wilson's disease.威尔逊氏病中铜蓝蛋白的观察
J Clin Invest. 1959 Oct;38(10 Pt 1-2):1672-82. doi: 10.1172/JCI103945.
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Heterogeneity of human ceruloplasmin.人铜蓝蛋白的异质性。
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Medical genetics.
N Engl J Med. 1960 Jun 9;262:1172-8 contd. doi: 10.1056/NEJM196006092622306.
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Metabolic studies in Wilson's disease using Cu64.使用铜64对威尔逊氏病进行的代谢研究。
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Genetic basis of the thalassaemia diseases.地中海贫血疾病的遗传基础。
Nature. 1959 Dec 19;184:1903-9. doi: 10.1038/1841903a0.
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Studies on copper metabolism. XXIX. A critical analysis of serum copper and ceruloplasmin concentrations in normal subjects, patients with Wilson's disease and relatives of patients with Wilson's disease.铜代谢研究。二十九。对正常受试者、威尔逊病患者及威尔逊病患者亲属血清铜和铜蓝蛋白浓度的批判性分析。
Am J Med. 1960 Apr;28:555-63. doi: 10.1016/0002-9343(60)90150-9.
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A genetical analysis of thirty families with Wilson's disease (hepatolenticular degeneration).对三十个患有威尔逊氏病（肝豆状核变性）家庭的遗传学分析。
Ann Hum Genet. 1960 Apr;24:33-43. doi: 10.1111/j.1469-1809.1959.tb01713.x.
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