Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2

Mutations in LMAN1 (ERGIC-53) or MCFD2 cause combined deficiency of factor V and factor VIII (F5F8D). LMAN1 and MCFD2 form a protein complex that functions as a cargo receptor ferrying FV and FVIII from the endoplasmic reticulum to the Golgi. In this study, we analyzed 10 previously reported and 10...

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Detalhes bibliográficos
Main Authors: Zhang, Bin, McGee, Beth, Yamaoka, Jennifer S., Guglielmone, Hugo, Downes, Katharine A., Minoldo, Salvador, Jarchum, Gustavo, Peyvandi, Flora, de Bosch, Norma B., Ruiz-Saez, Arlette, Chatelain, Bernard, Olpinski, Marian, Bockenstedt, Paula, Sperl, Wolfgang, Kaufman, Randal J., Nichols, William C., Tuddenham, Edward G. D., Ginsburg, David
Formato: Artigo
Idioma:Inglês
Publicado em: © 2006 by The American Society of Hematology 2006
Assuntos:
Hemostasis, Thrombosis, and Vascular Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1895703/
https://ncbi.nlm.nih.gov/pubmed/16304051
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2005-09-3620
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