Three Factor 11 Mutations Associated with Factor XI Deficiency in a Turkish Family.

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作者信息

Hançer Veysel Sabri, Gökgöz Zafer, Büyükdoğan Murat

机构信息

İstinye University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey.

Medicana International Ankara Hospital, Clinic of Hematology, Ankara, Turkey.

出版信息

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

DOI:10.4274/tjh.2017.0140

PMID:28947414

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5843782/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/810c/5843782/48dd01bef647/TJH-35-79-g1.jpg

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本文引用的文献

The dimeric structure of factor XI and zymogen activation.

Blood. 2013 May 9;121(19):3962-9. doi: 10.1182/blood-2012-12-473629. Epub 2013 Mar 20.

Coagulation procofactor activation by factor XIa.

J Thromb Haemost. 2010 Jul;8(7):1532-9. doi: 10.1111/j.1538-7836.2010.03899.x. Epub 2010 May 4.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723.

Dominant factor XI deficiency caused by mutations in the factor XI catalytic domain.

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

Studies of binding of prekallikrein and Factor XI to high molecular weight kininogen and its light chain.

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