一名上矢状窦血栓形成患者中一种新的蛋白S基因突变与蛋白S德岛突变相结合。 - Suppr

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超能文献

A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis.

作者信息

Shindo Akihiro, Ikejiri Makoto, Ii Yuichiro, Nakatani Kaname, Wada Hideo, Nobori Tsutomu, Tomimoto Hidekazu

出版信息

J Neurol. 2012 Jan;259(1):178-9. doi: 10.1007/s00415-011-6122-x. Epub 2011 Jun 7.

DOI:10.1007/s00415-011-6122-x

PMID:21647728

Abstract

摘要

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A novel protein S gene mutation combined with protein S Tokushima mutation in a patient with superior sagittal sinus thrombosis.一名上矢状窦血栓形成患者中一种新的蛋白S基因突变与蛋白S德岛突变相结合。

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Protein S Tokushima: abnormal molecule with a substitution of Glu for Lys-155 in the second epidermal growth factor-like domain of protein S.蛋白S德岛：一种异常分子，在蛋白S的第二个表皮生长因子样结构域中，第155位赖氨酸被谷氨酸替代。

Blood. 1994 Feb 1;83(3):683-90.

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Frequent association of thrombophilia in cerebral venous sinus thrombosis.频繁发生血栓形成倾向与颅内静脉窦血栓形成相关。

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本文引用的文献

Cerebral venous sinus thrombosis: review of the demographics, pathophysiology, current diagnosis, and treatment.脑静脉窦血栓形成：人口统计学、病理生理学、当前诊断及治疗综述

Neurosurg Focus. 2009 Nov;27(5):E3. doi: 10.3171/2009.8.FOCUS09167.

Hereditary thrombophilia.遗传性血栓形成倾向

Thromb J. 2006 Sep 12;4:15. doi: 10.1186/1477-9560-4-15.

Protein S and protein C gene mutations in Japanese deep vein thrombosis patients.日本深静脉血栓形成患者的蛋白S和蛋白C基因突变

Clin Biochem. 2005 Oct;38(10):908-15. doi: 10.1016/j.clinbiochem.2005.05.006.

Cerebral venous and sinus thrombosis.脑静脉和静脉窦血栓形成

J Neurol. 2004 Jan;251(1):11-23. doi: 10.1007/s00415-004-0321-7.

Genetic analysis, phenotypic diagnosis, and risk of venous thrombosis in families with inherited deficiencies of protein S.蛋白S遗传性缺陷家族中的基因分析、表型诊断及静脉血栓形成风险

Blood. 2000 Mar 15;95(6):1935-41.

Cerebral venous infarctions presenting as enhancing space-occupying lesions: MRI findings.表现为强化占位性病变的脑静脉梗死：MRI表现

J Neuroimaging. 1998 Oct;8(4):210-5. doi: 10.1111/jon199884210.

Familial thrombophilia: a complex genetic disorder.家族性血栓形成倾向：一种复杂的遗传疾病。

Semin Hematol. 1997 Jul;34(3):256-64.

A phenotypically neutral dimorphism of protein S: the substitution of Lys155 by Glu in the second EGF domain predicted by an A to G base exchange in the gene.

Thromb Res. 1993 Jun 1;70(5):395-403. doi: 10.1016/0049-3848(93)90081-x.

Blood. 1994 Feb 1;83(3):683-90.

Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis.蛋白质S德岛：在一个患有血栓形成的日本家族中发现的一种异常蛋白质S。

Thromb Haemost. 1993 Aug 2;70(2):244-6.

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