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[Phenotype and gene analysis of a hereditary coagulation factor Ⅻ deficiency].
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本文引用的文献

1
Coagulation factor XII protease domain crystal structure.凝血因子XII蛋白酶结构域晶体结构。
J Thromb Haemost. 2015 Apr;13(4):580-91. doi: 10.1111/jth.12849. Epub 2015 Mar 11.
2
Factor XII Osaka: abnormal factor XII with partially defective prekallikrein cleavage activity.Factor XII Osaka：异常因子 XII，其前激肽释放酶裂解活性部分缺失。
Thromb Haemost. 2011 Mar;105(3):473-8. doi: 10.1160/TH10-02-0123. Epub 2011 Jan 25.
3
Molecular genetic analysis of Korean patients with coagulation factor XII deficiency.韩国凝血因子XII缺乏症患者的分子遗传学分析。
Blood Coagul Fibrinolysis. 2010 Jun;21(4):308-12. doi: 10.1097/MBC.0b013e32833449df.
4
Factor XII: what does it contribute to our understanding of the physiology and pathophysiology of hemostasis & thrombosis.因子 XII：它对我们理解止血和血栓形成的生理学和病理生理学有何贡献。
Thromb Res. 2010 Mar;125(3):210-5. doi: 10.1016/j.thromres.2009.11.028.
5
Genetic study in patients with factor XII deficiency: a report of three new mutations exon 13 (Q501STOP), exon 14 (P547L) and -13C>T promoter region in three compound heterozygotes.凝血因子XII缺乏症患者的遗传学研究：三例复合杂合子中13号外显子（Q501STOP）、14号外显子（P547L）及启动子区域-13C>T的三个新突变报告
Blood Coagul Fibrinolysis. 2008 Oct;19(7):639-43. doi: 10.1097/MBC.0b013e32830d8629.
6
Coagulation factor XII (Hageman factor) Washington D.C.: inactive factor XIIa results from Cys-571----Ser substitution.凝血因子XII（哈格曼因子）华盛顿特区：无活性的因子XIIa由半胱氨酸-571替换为丝氨酸产生。
Proc Natl Acad Sci U S A. 1989 Nov;86(21):8319-22. doi: 10.1073/pnas.86.21.8319.

[Phenotype and gene analysis of a hereditary coagulation factor Ⅻ deficiency].

作者信息

Li S S, Liu J, Shen C F, Shu K Y, Wang X O, Li F F, Yang X, Yang W, Wang J L, Jiang M H

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2018 Aug 14;39(8):679-681. doi: 10.3760/cma.j.issn.0253-2727.2018.08.014.

DOI:10.3760/cma.j.issn.0253-2727.2018.08.014
PMID:30180472
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7342836/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/51a6ad1eafca/cjh-39-08-679-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/2ebdf70ba0f5/cjh-39-08-679-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/2baf69042d12/cjh-39-08-679-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/51a6ad1eafca/cjh-39-08-679-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/2ebdf70ba0f5/cjh-39-08-679-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/2baf69042d12/cjh-39-08-679-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7a1f/7342836/51a6ad1eafca/cjh-39-08-679-g003.jpg