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Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian ...

Mohanty(Dipika),Ghosh(Kanjaksha),Shetty(Sh... Am J Hematol 2005-09-23

...MCFD2 genes. One of the three families showed the presence of a G to A substitution in exon 2 of the MCFD2 gene, whereas...

Identifying novel genetic determinants of hemostatic balance.

Ginsburg(D) J Thromb Haemost 2005-12-07

...MCFD2. These proteins form a cargo receptor that facilitates the transport of factors V and VIII, and presumably other p...

A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII defi...

Segal(Avichai),Zivelin(Ariella),Rosenberg(... Blood Coagul Fibrinolysis 2005-01-13

...MCFD2 genes. These genes encode for proteins that form a complex that takes part in the transport of factor V and factor...

Heat shock induces preferential translation of ERGIC-53 and affects its recyc...

Spatuzza(Carmen),Renna(Maurizio),Faraonio(... J Biol Chem 2004-11-24

...MCFD2, which interacts with ERGIC-53 to form a complex required for the ER-to-Golgi transport of specific proteins, is r...

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex.

Zhang(Bin),Cunningham(Michael A),Nichols(W... Nat Genet 2003-07-03

...MCFD2 cause F5F8D with a phenotype indistinguishable from that caused by mutations in LMAN1. MCFD2 is localized to the E...

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