The demonstration of homozygosity for an inactivating mutation in all of the patients from nine families with combined FV and FVIII deficiency clearly establishes ERGIC-53 as the gene responsible for the disease. This surprising finding identifies the molecular basis of the disorder as a defect in a common pathway for the intracellular trafficking of these two blood coagulation factors. In addition, the data demonstrate a role for a lectin within the ER-Golgi intermediate compartment in the transport of a specific subset of secreted glycoproteins.
|Number of pages||4|
|State||Published - Sep 1999|