Structure of the ERGIC-53 gene and mutations identified in combined factors V and VIII deficiency. Exons, indicated by rectangles, are numbered from 1 to 13. The coding portion of the gene is shaded, with the open portions of exons 1 and 13 representing the 5′ UTR and 3′ UTR, respectively. The exons, as well as introns 2, 9, and 12, are shown to scale. The // in the remaining introns indicates that the size was not determined. The locations of the two founder mutations identified in 10 Jewish families9are shown above (indicated by *), while the eight mutations detected by sequence analysis in the 19 families of this study (see Table 2) are shown below the gene.