In VitroSecretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models-Reference-Cited by-同舟云学术

In VitroSecretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models

Published:2013-09-13 Issue:11 Volume:34 Page:1490-1500
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Biswas Arijit¹,Thomas Anne¹,Bevans Carville G.²,Ivaskevicius Vytautas¹,Oldenburg Johannes¹

Affiliation:

1. Institute of Experimental Haematology and Transfusion Medicine; University Clinic Bonn; Bonn Germany

2. Im Hermeshain; Frankfurt am Main; Germany

Funder

BONFOR(University of Bonn) to AB; Novonordisk to AB and JO

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22391/fullpdf

Reference54 articles.

1. Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease);Abrera-Abeleda;J Med Genet,2006

2. Factor XIII deficiency;Anwar;Br J Haematol,1999

3. The protein model portal;Arnold;J Struct Funct Genomics,2009

4. Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia;Balogh;Blood,2000

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

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