Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency.

作者信息

Anwar Rashida, Valleley Elizabeth M A, Trinh Chi H

机构信息

Leeds Institute of Molecular Medicine, University of Leeds, St James's University Hospital, Beckett Street, LS9 7TF, Leeds, United Kingdom.

出版信息

Hum Genet. 2010 Jan;127(1):115-6.

PMID:20108427

Abstract

摘要

相似文献

Novel human pathological mutations. Gene symbol: F13A1. Disease: Factor XIII Deficiency.

Hum Genet. 2010 Jan;127(1):115-6.

Factor XIII deficiency: new nonsense and deletion mutations in the human factor XIIIA gene.

Haematologica. 2005 Dec;90(12):1718-20.

Novel and recurrent mutations in the F13A1 gene in unrelated Korean patients with congenital factor XIII deficiency.

Blood Coagul Fibrinolysis. 2015 Jan;26(1):46-9. doi: 10.1097/MBC.0000000000000171.

Comparison of F13A1 gene mutations in 73 patients treated with recombinant FXIII-A.

Haemophilia. 2017 May;23(3):e194-e203. doi: 10.1111/hae.13233.

Molecular characterization of a novel mutation in the factor XIII A subunit gene associated with a severe defect and an adulthood diagnosis.

Haemophilia. 2007 Mar;13(2):221-2. doi: 10.1111/j.1365-2516.2006.01432.x.

Homozygous intronic mutation leading to inefficient transcription combined with a novel frameshift mutation in F13A1 gene causes FXIII deficiency.

J Hum Genet. 2011 Jun;56(6):460-3. doi: 10.1038/jhg.2011.41. Epub 2011 Apr 21.

Congenital factor XIII deficiency: a commentary on 'Homozygous intronic mutation leading to inefficient transcription combined with a novel frame-shift mutation in F13A1 gene causes FXIII deficiency'.

J Hum Genet. 2011 Jul;56(7):475-6. doi: 10.1038/jhg.2011.53. Epub 2011 Jun 2.

Molecular analysis of sixteen unrelated factor XIIIA deficient families from south-east of Iran.

Br J Haematol. 2008 Mar;140(5):581-4. doi: 10.1111/j.1365-2141.2007.06963.x.

Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function.

Haematologica. 2010 Jun;95(6):956-62. doi: 10.3324/haematol.2009.017210. Epub 2010 Feb 23.

Coagulation Factor XIIIA Subunit Missense Mutations Affect Structure and Function at the Various Steps of Factor XIII Action.

Hum Mutat. 2016 Oct;37(10):1030-41. doi: 10.1002/humu.23041. Epub 2016 Aug 21.

引用本文的文献

Genome-Wide DNA Methylation Profile Indicates Potential Epigenetic Regulation of Aging in the Rhesus Macaque Thymus.

Int J Mol Sci. 2022 Nov 29;23(23):14984. doi: 10.3390/ijms232314984.

Catridecacog: a breakthrough in the treatment of congenital factor XIII A-subunit deficiency?

J Blood Med. 2014 Jul 9;5:107-13. doi: 10.2147/JBM.S35395. eCollection 2014.

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