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A genetic study of Wilson's disease: evidence for heterogeneity.

作者信息

Cox D W, Fraser F C, Sass-Kortsak A

出版信息

Am J Hum Genet. 1972 Nov;24(6 Pt 1):646-66.

PMID:5082916
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762287/
Abstract
摘要

相似文献

1
A genetic study of Wilson's disease: evidence for heterogeneity.威尔逊氏病的遗传学研究：异质性证据
Am J Hum Genet. 1972 Nov;24(6 Pt 1):646-66.
2
Turnover studies of copper in homozygotes and heterozygotes for Wilson's disease and controls: isotope tracer studies with 67 Cu.威尔逊病纯合子和杂合子以及对照中铜的周转率研究：用⁶⁷铜进行的同位素示踪研究
Clin Sci. 1972 Nov;43(5):605-15. doi: 10.1042/cs0430605.
3
Clinical studies of a large family with Wilson's disease.对一个患有威尔逊氏病的大家族进行的临床研究。
South Med J. 1980 May;73(5):607-10. doi: 10.1097/00007611-198005000-00017.
4
Wilson's disease. A treatable liver disease in children.威尔逊氏病。一种可治疗的儿童肝脏疾病。
Pediatr Clin North Am. 1975 Nov;22(4):963-84.
5
Reduced oxidase activity in the caeruloplasmin of two families with Wilson's disease.两个患有威尔逊氏病的家族中铜蓝蛋白氧化酶活性降低。
J Clin Pathol. 1977 Jan;30(1):81-3. doi: 10.1136/jcp.30.1.81.
6
Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease.利用连锁遗传标记预测常染色体隐性疾病位点的基因型：在威尔逊氏病中的应用
Hum Genet. 1988 Jun;79(2):109-17. doi: 10.1007/BF00280547.
7
Renal abnormalities in heterozygotes for Wilson's disease: genes or copper?肝豆状核变性杂合子的肾脏异常：基因还是铜？
Am J Med Sci. 1972 Aug;264(2):157-60. doi: 10.1097/00000441-197208000-00011.
8
Absorption of copper in homozygotes and heterozygotes for Wilson's disease and controls: isotope tracer studies with 67 Cu and 64 Cu.威尔逊病纯合子和杂合子以及对照者对铜的吸收：用⁶⁷Cu和⁶⁴Cu进行的同位素示踪研究。
Clin Sci. 1972 Nov;43(5):617-25. doi: 10.1042/cs0430617.
9
[Wilson's disease in the German Democratic Republic. I. Genetics and epidemiology].[德意志民主共和国的威尔逊氏病。I. 遗传学与流行病学]
Z Gesamte Inn Med. 1979 Dec 15;34(24):744-8.
10
[Features of the course and disorders of copper and ceruloplasmin metabolism in hepatolenticular degeneration].[肝豆状核变性中铜及铜蓝蛋白代谢的病程特点与紊乱]
Zh Nevropatol Psikhiatr Im S S Korsakova. 1967;67(7):982-90.

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Distribution of non-ceruloplasmin-bound copper after i.v. Cu injection studied with PET/CT in patients with Wilson disease.用正电子发射断层扫描/计算机断层扫描（PET/CT）研究威尔逊病患者静脉注射铜后非铜蓝蛋白结合铜的分布情况。
JHEP Rep. 2023 Sep 25;5(11):100916. doi: 10.1016/j.jhepr.2023.100916. eCollection 2023 Nov.
2
Wilson's Disease-Genetic Puzzles with Diagnostic Implications.威尔逊氏病——具有诊断意义的遗传谜题
Diagnostics (Basel). 2023 Mar 29;13(7):1287. doi: 10.3390/diagnostics13071287.
3
Wilson's disease: a comprehensive review of the molecular mechanisms.威尔逊氏病：分子机制的全面综述
Int J Mol Sci. 2015 Mar 20;16(3):6419-31. doi: 10.3390/ijms16036419.
4
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.同胞兄妹患阿拉吉耶综合征和威尔逊病：诊断难题
Can J Gastroenterol. 2012 Jun;26(6):330-2. doi: 10.1155/2012/176543.
5
Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism.中年威尔逊病杂合子携带者未出现与铜代谢相关的明显表型偏差。
J Genet. 2010 Dec;89(4):463-7. doi: 10.1007/s12041-010-0065-3.
6
Ceruloplasmin and superoxide dismutase (SOD1) in heterozygotes for Wilson disease: A case control study.血清铜蓝蛋白和超氧化物歧化酶 1（SOD1）在威尔逊病杂合子中的研究：一项病例对照研究。
Neuropsychiatr Dis Treat. 2009;5:55-9. doi: 10.2147/ndt.s4360. Epub 2009 Apr 8.
7
Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations.在无帕金基因突变的样本中进行全基因组筛查以鉴定帕金森病的易感基因。
Am J Hum Genet. 2002 Jul;71(1):124-35. doi: 10.1086/341282. Epub 2002 Jun 7.
8
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.台湾地区肝豆状核变性家系中ATP7B基因第8外显子778密码子出现两种突变的频率较高。
J Med Genet. 1996 Jun;33(6):521-3. doi: 10.1136/jmg.33.6.521.
9
Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.通过与多态性微卫星的连锁不平衡来精确确定肝豆状核变性的位置。
Am J Hum Genet. 1994 Jan;54(1):79-87.
10
Haplotype studies in Wilson disease.威尔逊病的单倍型研究。
Am J Hum Genet. 1994 Jan;54(1):71-8.

本文引用的文献

1
A family study of the biochemical defects in Wilson's disease.威尔逊氏病生化缺陷的家族研究。
J Clin Pathol. 1961 May;14(3):264-70. doi: 10.1136/jcp.14.3.264.
2
DETECTION OF THE HETEROZYGOUS CARRIER OF THE WILSON'S DISEASE GENE.威尔逊病基因杂合携带者的检测
J Clin Invest. 1961 Apr;40(4):707-15. doi: 10.1172/JCI104304.
3
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.
4
PHYSICAL AND CHEMICAL STUDIES ON CERULOPLASMIN. 3. A STABILIZING COPPER-COPPER INTERACTION IN CERULOPLASMIN.铜蓝蛋白的物理和化学研究。3. 铜蓝蛋白中一种稳定的铜-铜相互作用。
J Biol Chem. 1965 May;240:1974-8.
5
A GENETIC, BIOCHEMICAL AND CLINICAL STUDY OF WILSON'S DISEASE AMONG CHINESE IN TAIWAN.台湾地区中国人威尔逊氏病的遗传学、生物化学及临床研究
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1963 Apr-Jun;4:81-104.
6
The diagnosis of Wilson's disease in asymptomatic patients.无症状患者威尔逊病的诊断。
JAMA. 1963 Mar 2;183:747-50. doi: 10.1001/jama.1963.03700090067011.
7
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.
8
Studies on copper metabolism. XIV. Radioactive copper studies in normal subjects and in patients with hepatolenticular degeneration.铜代谢研究。十四。正常受试者和肝豆状核变性患者的放射性铜研究。
J Clin Invest. 1955 Dec;34(12):1766-78. doi: 10.1172/JCI103232.
9
Localization of Cu64 in serum fractions following oral administration: an alteration in Wilson's disease.口服给药后血清组分中铜64的定位：威尔逊病中的一种改变。
Proc Soc Exp Biol Med. 1954 Jan;85(1):44-8. doi: 10.3181/00379727-85-20780.
10
Genetic and biochemical aspects of Wilson's disease.威尔逊氏病的遗传和生化方面
Am J Med. 1953 Oct;15(4):442-9. doi: 10.1016/0002-9343(53)90134-x.