Coexisting congenital dysfibrinogenemia with a novel mutation in fibrinogen γ chain (γ322 Phe→Ile, Fibrinogen Beijing) and haemophilia B in a family
Author:
Affiliation:
1. Department of Hematology; Peking Union Medical College Hospital (PUMCH); Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC); Beijing China
2. Foothills Medical Centre; University of Calgary; Calgary AB Canada
Funder
Novo Nordisk Haemophilia Research Fund (NNHRF) China
National Public Health Grand Research Foundation
Publisher
Wiley
Subject
Genetics(clinical),Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/hae.12712/fullpdf
Reference22 articles.
1. The dysfibrinogenemia;Roberts;Br J Haematol,2001
2. Congenital fibrinogen disorders: an update;Moerloose;Semin Thromb Hemost,2013
3. Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen;Haverkate;Thromb Haemost,1995
4. Evolution and organization of the fibrinogen locus on chromosome 4: gene duplication accompanied by transposition and inversion;Kant;Proc Natl Acad Sci USA,1985
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2. Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family;Acta Haematologica;2020
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