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Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.

作者信息

Prasad Rajendra, Kaur Gurjit, Kumar Sandeep, Ram Thapa Babu

出版信息

J Gastroenterol Hepatol. 2005 Apr;20(4):660-2. doi: 10.1111/j.1440-1746.2005.03781.x.

DOI:10.1111/j.1440-1746.2005.03781.x
PMID:15836726
Abstract
摘要

相似文献

1
Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.一名患有威尔逊氏病并伴有葡萄糖-6-磷酸脱氢酶缺乏症的患者中,ATP7B基因存在两种新突变(2976INSA、4311insA)
J Gastroenterol Hepatol. 2005 Apr;20(4):660-2. doi: 10.1111/j.1440-1746.2005.03781.x.
2
[Molecular biology analysis: hereditary hemochromatosis, Wilson disease, alpha 1-antitrypsin deficiency and Dubin-Johnson syndrome].[分子生物学分析:遗传性血色素沉着症、威尔逊病、α1-抗胰蛋白酶缺乏症和杜宾-约翰逊综合征]
Praxis (Bern 1994). 1998 Oct 14;87(42):1390-6.
3
Hemolysis in Wilson's disease. The role of glucose-6-phosphate dehydrogenase inhibition.威尔逊病中的溶血。6-磷酸葡萄糖脱氢酶抑制的作用。
Isr J Med Sci. 1970 Jul-Aug;6(4):549-54.
4
[The onset of psychiatric disorders and Wilson's disease].[精神疾病与威尔逊氏病的发病]
Encephale. 2007 Dec;33(6):924-32. doi: 10.1016/j.encep.2006.08.009. Epub 2007 Sep 5.
5
Acute hemolytic anemia as an initial clinical manifestation of Wilson's disease.急性溶血性贫血作为威尔逊病的初始临床表现。
Folia Med (Plovdiv). 2000;42(2):42-6.
6
Hepatic presentation of Wilson's disease.威尔逊病的肝脏表现。
Indian Pediatr. 1987 May;24(5):385-93.
7
Gall stones, G-6PD deficiency and Wilson's disease.
Indian J Pediatr. 2002 Jul;69(7):635. doi: 10.1007/BF02722695.
8
Hepatitis A super infection as a cause of liver failure in a child with Wilson's disease.甲型肝炎重叠感染作为威尔逊病患儿肝衰竭的一个病因。
Turk J Pediatr. 2007 Apr-Jun;49(2):199-202.
9
Molecular characterization of glucose-6-phosphate dehydrogenase deficiency in the Fars province of Iran.伊朗法尔斯省葡萄糖-6-磷酸脱氢酶缺乏症的分子特征
Haematologica. 2003 Mar;88(3):346-7.
10
[Quid? Wilson's disease].
J Radiol. 2000 Mar;81(3):247-9.

引用本文的文献

1
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.窥探威尔逊病蛋白 ATP7B 的调控机制,揭示了哺乳动物顶端转运途径的复杂性。
Metallomics. 2018 Mar 1;10(3):378-387. doi: 10.1039/c7mt00314e. Epub 2018 Feb 23.
2
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.印度人群中威尔逊病的分子发病机制:ATP7B基因突变谱、常见缺陷、临床异质性及对诊断的意义
Cell Mol Neurobiol. 2007 Dec;27(8):1023-33. doi: 10.1007/s10571-007-9192-7. Epub 2007 Sep 2.
3
Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
印度威尔逊病患者中最常见突变R778G、R778L、R778W、I1102T和H1069Q的分析:基因型/表型/铜ATP酶活性之间的相关性
Mol Cell Biochem. 2007 Jan;294(1-2):1-10. doi: 10.1007/s11010-005-9028-z. Epub 2006 Dec 8.
4
Evaluation of copper toxicity in isolated human peripheral blood mononuclear cells and it's attenuation by zinc: ex vivo.体外评估铜对分离的人外周血单个核细胞的毒性及其锌介导的减毒作用。
Mol Cell Biochem. 2006 Jan;282(1-2):13-21. doi: 10.1007/s11010-006-1168-2.