一名韩国凝血因子XI缺乏症患者凝血因子XI基因（F11）中的Cys482Trp错义突变。 - Suppr

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

作者信息

Choi Seung Jun, Kim Juwon, Lee Kyung-A, Choi Jong Rak, Yoo Jongha

机构信息

Department of Laboratory Medicine, Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. ; Department of Laboratory Medicine, National Health Insurance Service Ilsan Hospital, Goyang, Korea.

Department of Laboratory Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.

出版信息

Ann Lab Med. 2014 Jul;34(4):332-5. doi: 10.3343/alm.2014.34.4.332. Epub 2014 Jun 19.

DOI:10.3343/alm.2014.34.4.332

PMID:24982842

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4071194/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d94d/4071194/7b27a9fe43b6/alm-34-332-g001.jpg

相似文献

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

Ann Lab Med. 2014 Jul;34(4):332-5. doi: 10.3343/alm.2014.34.4.332. Epub 2014 Jun 19.

Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.

Acta Haematol. 2020;143(5):472-477. doi: 10.1159/000505012. Epub 2020 Jan 24.

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3.

Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.

Blood Coagul Fibrinolysis. 2012 Apr;23(3):251-2. doi: 10.1097/MBC.0b013e32834ea02a.

Genetic analysis of a pedigree with combined factor XII and factor XI deficiency.

Blood Coagul Fibrinolysis. 2011 Mar;22(2):118-22. doi: 10.1097/MBC.0b013e3283433147.

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.

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

A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency.

Blood Coagul Fibrinolysis. 2021 Sep 1;32(6):401-405. doi: 10.1097/MBC.0000000000001010.

A novel F11 mutation in a Chinese paediatric patient with severe factor XI deficiency.

Thromb Res. 2020 Jun;190:89-90. doi: 10.1016/j.thromres.2020.04.016. Epub 2020 Apr 18.

Two factor XI mutations in a Chinese family with factor XI deficiency.

Am J Hematol. 2003 Oct;74(2):136-8. doi: 10.1002/ajh.10396.

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

本文引用的文献

A novel F11 mutation in a Korean pediatric patient with recurrent epistaxis.

Blood Coagul Fibrinolysis. 2013 Jun;24(4):433-5. doi: 10.1097/MBC.0b013e32835bfe0c.

A novel missense mutation Asp506Gly in Exon 13 of the F11 gene in an asymptomatic Korean woman with mild factor XI deficiency.

Korean J Lab Med. 2011 Oct;31(4):290-3. doi: 10.3343/kjlm.2011.31.4.290. Epub 2011 Oct 3.

Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.

Clin Genet. 2012 Aug;82(2):180-6. doi: 10.1111/j.1399-0004.2011.01732.x. Epub 2011 Jun 30.

Factor XI deficiency in humans.

J Thromb Haemost. 2009 Jul;7 Suppl 1:84-7. doi: 10.1111/j.1538-7836.2009.03395.x.

A case of factor XI deficiency caused by compound heterozygous F11 gene mutation.

Haemophilia. 2009 Mar;15(2):603-6. doi: 10.1111/j.1365-2516.2008.01937.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.

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

Factor XI in haemostasis and thrombosis: past, present and future.

Thromb Haemost. 2007 Jul;98(1):84-9.

Spectrum of factor XI (F11) mutations in the UK population--116 index cases and 140 mutations.

Hum Mutat. 2006 Aug;27(8):829. doi: 10.1002/humu.9439.

Recurrent mutations of factor XI gene in Japanese.

Int J Hematol. 2006 Jun;83(5):462-3. doi: 10.1532/IJH97.06045.

A common ancestral mutation (C128X) occurring in 11 non-Jewish families from the UK with factor XI deficiency.

J Thromb Haemost. 2004 Jun;2(6):918-24. doi: 10.1111/j.1538-7836.2004.00723.x.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.

作者信息

机构信息

出版信息

相似文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

本文引用的文献