Western blot analysis of ERGIC-53 protein levels in selected families with F5F8D (see Table 1 for the nature of the ERGIC-53 mutation present in each affected individual). N indicates a normal control, lanes C1 and C2 are two different mutations from reference 1 (C1: 86-89insG; C2 IVS9 + 2 T > C). The arrow indicates the position of the ERGIC-53 protein band. Normal levels of ERGIC-53 protein were also found in two unaffected family members from family A19.