10例遗传性凝血因子Ⅺ缺乏症患者的分子发病机制及临床表型分析 - Suppr

Suppr

超能文献

[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].

作者信息

Li S X, Jin Y H, Yang L L, Xu Q Y, Li X L, Wang M S

机构信息

Medical Laboratory Center, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2020 Dec 14;41(12):1041-1043. doi: 10.3760/cma.j.issn.0253-2727.2020.12.013.

DOI:10.3760/cma.j.issn.0253-2727.2020.12.013

PMID:33445854

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7840561/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/adc8/7840561/2675066fff7a/cjh-41-12-1041-g001.jpg

相似文献

[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].10例遗传性凝血因子Ⅺ缺乏症患者的分子发病机制及临床表型分析

Zhonghua Xue Ye Xue Za Zhi. 2020 Dec 14;41(12):1041-1043. doi: 10.3760/cma.j.issn.0253-2727.2020.12.013.

Molecular investigation of 41 patients affected by coagulation factor XI deficiency.41例凝血因子XI缺乏症患者的分子研究

Haemophilia. 2018 Mar;24(2):e50-e55. doi: 10.1111/hae.13378. Epub 2017 Nov 27.

Characterization of combined factor VII and factor XI deficiencies.

Haemophilia. 2008 May;14(3):639-42. doi: 10.1111/j.1365-2516.2007.01646.x. Epub 2008 Jan 28.

[Protein and gene structures of the contact factors and their abnormalities].

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):976-83.

Global coagulation tests to assess the value of the presurgical treatment in a patient with congenital factor XI deficiency and inhibitor.

Int J Lab Hematol. 2020 Apr;42(2):e68-e70. doi: 10.1111/ijlh.13113. Epub 2019 Nov 6.

Analysis of the structural effects of four novel and a previously known mutations causing factor XI deficiency.

Thromb Haemost. 2009 Sep;102(3):603-6. doi: 10.1160/TH09-02-0117.

A 14-bp deletion (codon 554 del AAGgtaacagagtg) at exon 14/intron N junction of the coagulation factor XI gene disrupts splicing and causes severe factor XI deficiency.

Hum Mutat. 1996;8(1):77-8. doi: 10.1002/(SICI)1098-1004(1996)8:1<77::AID-HUMU12>3.0.CO;2-O.

A novel heterozygous missense mutation (His127Arg) in a family with inherited cross-reacting material positive factor XI deficiency.一个患有遗传性交叉反应物质阳性因子XI缺乏症的家族中发现一种新的杂合错义突变（His127Arg）。

Blood Coagul Fibrinolysis. 2013 Sep;24(6):670-2. doi: 10.1097/MBC.0b013e3283601c2d.

Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family.与一个土耳其家庭中因子XI缺乏症相关的三种因子11突变

Turk J Haematol. 2018 Mar 1;35(1):79-80. doi: 10.4274/tjh.2017.0140. Epub 2017 Sep 26.

Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.两个遗传性凝血因子 XI 缺乏症家族中的基因变异及突变鉴定

Acta Haematol. 2023;146(2):106-116. doi: 10.1159/000528583. Epub 2022 Dec 21.

引用本文的文献

[Molecular mechanism analysis of a family with hereditary coagulation F Ⅺ deficiency caused by compound heterozygous mutations].[复合杂合突变导致遗传性凝血因子Ⅺ缺乏症家系的分子机制分析]

Zhonghua Xue Ye Xue Za Zhi. 2024 Mar 14;45(3):294-298. doi: 10.3760/cma.j.cn121090-20230814-00065.

本文引用的文献

Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.中国57例先天性因子XI缺乏症患者的临床表现及突变谱

Blood Cells Mol Dis. 2016 May;58:29-34. doi: 10.1016/j.bcmd.2016.01.004. Epub 2016 Jan 18.

Biological determinants of bleeding in patients with heterozygous factor XI deficiency.杂合子因子 XI 缺乏症患者出血的生物学决定因素。

Br J Haematol. 2012 Jan;156(2):245-51. doi: 10.1111/j.1365-2141.2011.08945.x. Epub 2011 Nov 21.

Structural and functional features of factor XI.凝血因子XI的结构与功能特征

J Thromb Haemost. 2009 Jul;7 Suppl 1(Suppl 1):75-8. doi: 10.1111/j.1538-7836.2009.03414.x.

Severe factor XI deficiency in a Korean woman with a novel missense mutation (Val498Met) and duplication G mutation in exon 13 of the F11 gene.一名韩国女性患有严重的因子XI缺乏症，其F11基因第13外显子存在一种新的错义突变（Val498Met）和重复G突变。

Blood Coagul Fibrinolysis. 2008 Oct;19(7):679-83. doi: 10.1097/MBC.0b013e32830ef8f9.

Identification of five novel mutations in the factor XI gene (F11) of patients with factor XI deficiency.在因子 XI 缺乏症患者中鉴定因子 XI 基因（F11）的五个新突变。

Blood Coagul Fibrinolysis. 2006 Jan;17(1):69-73. doi: 10.1097/01.mbc.0000198054.50257.96.

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.由因子XI催化结构域突变引起的显性因子XI缺乏症。

Blood. 2004 Jul 1;104(1):128-34. doi: 10.1182/blood-2003-10-3530. Epub 2004 Mar 16.

High levels of coagulation factor XI as a risk factor for venous thrombosis.高水平凝血因子XI作为静脉血栓形成的一个危险因素。

N Engl J Med. 2000 Mar 9;342(10):696-701. doi: 10.1056/NEJM200003093421004.

One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews.导致阿什肯纳兹犹太人（II型）因子XI缺乏的两种常见突变之一，在代表犹太人古老基因库的伊拉克犹太人中也很普遍。

Blood. 1995 Jan 15;85(2):429-32.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验