Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in theF13Agene; diagnosis and classification according to the ISTH/SSC guidelines-Reference-Cited by-同舟云学术

Severe congenital factor XIII deficiency caused by novel W187X and G273V mutations in theF13Agene; diagnosis and classification according to the ISTH/SSC guidelines

Published:2013-11-29 Issue:2 Volume:20 Page:255-262
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Souri M.¹,Biswas A.²,Misawa M.³,Omura H.⁴,Ichinose A.¹

Affiliation:

1. Department of Molecular Patho-Biochemistry and Patho-Biology; Yamagata University School of Medicine; Yamagata Japan

2. Institute of Experimental Hematology and Transfusion Medicine; University Clinic Bonn; Bonn Germany

3. Department of Medicine (Hematology); Ako Central Hospital; Ako Japan

4. Department of Medicine (Hematology); Tottori Prefectural Central Hospital; Tottori Japan

Publisher

Wiley

Subject

Genetics (clinical),Hematology,General Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12298/fullpdf

Reference24 articles.

1. Extracellular transglutaminase: factor XIII;Ichinose;Prog Exp Tumor Res,2005

2. Factor XIII: a coagulation factor with multiple plasmatic and cellular functions;Muszbek;Physiol Rev,2011

3. Factor XIII deficiency;Hsieh;Haemophilia,2008

4. An update of the mutation profile of Factor 13 A and B genes;Biswas;Blood Rev,2011

5. Factor XIII is a key molecule at the intersection of coagulation and fibrinolysis as well as inflammation and infection control;Ichinose;Int J Hematol,2012

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