Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor. - Suppr | 超能文献

Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

作者信息

De Marchi M, Jacot-Guillarmod H, Ressa T G, Carbonara A O

出版信息

Clin Genet. 1973;4(3):229-36. doi: 10.1111/j.1399-0004.1973.tb01147.x.

DOI:10.1111/j.1399-0004.1973.tb01147.x

Abstract

摘要

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Hereditary angioedema: report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

Clin Genet. 1973;4(3):229-36. doi: 10.1111/j.1399-0004.1973.tb01147.x.

2

[Studies on complement factors in hereditary Quincke's edema].[遗传性昆克水肿中补体因子的研究]

Arch Dermatol Forsch. 1972;244:560-2.

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Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema.遗传性血管性水肿患者中C1酯酶抑制剂的基因决定异质性。

J Clin Invest. 1971 Oct;50(10):2143-9. doi: 10.1172/JCI106708.

4

Hereditary angioedema. Report of a large kindred with a rare genetic variant of C1-esterase inhibitor.

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5

Inherited high serum levels of a functionally deficient complement esterase inhibitor associated with hereditary angioedema.遗传性血管性水肿相关的遗传性血清中功能性缺陷补体酯酶抑制剂水平升高。

Humangenetik. 1972;15(2):119-25. doi: 10.1007/BF00295738.

6

Distinction between hereditary and acquired angioneurotic oedema according to the complement system.

Biomedicine. 1975 Oct 20;23(8):328-34.

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[Abdominal manifestations of hereditary angioneurotic edema. Importance of the exploration of the complement system (apropos of 29 families)].[遗传性血管性水肿的腹部表现。补体系统检测的重要性（关于29个家庭）]

Biomedicine. 1976 Dec 15;24(6):443-9.

8

The genetics of hereditary angioedema: a hypothesis.

Clin Genet. 1973 Jun;4(6):494-9. doi: 10.1111/j.1399-0004.1973.tb01938.x.

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Hereditary angioneurotic edema. Report of a large kindred with defect in C'1 esterase inhibitor and review of the literature.遗传性血管性水肿。一个伴有C1酯酶抑制剂缺陷的大家族病例报告及文献综述。

Ann Intern Med. 1970 Jul;73(1):55-9. doi: 10.7326/0003-4819-73-1-55.

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[Determination of the C1 esterase inhibitor].[C1酯酶抑制剂的测定]

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