Family pedigrees; patient genotypic and phenotypic characteristics. Patients included in this study are outlined with boxes. (A) Family 1 with an exonic mutation, c.3538G>A, causing type 2A VWD in a father and daughter. (B) Family 2 with a consensus splice site mutation, c.5842+1G>C, causing mild type 1 VWD mother and type 3 VWD when coinherited with c.3939G>A in her son. (C) Family 3 with an intronic mutation c.5699-20A>T causing type 1 VWD in 2 siblings. (D) Plasma multimers from affected individuals. (1) Abnormal type 2A VWD control; (2) NPP control; (3) patient V69 with reduced HMWM; (4) patient V70 with reduced HMWM; (5) patient T151 showing no multimers; (6) patient T152 with full-range multimers; (7) patient V447 with full-range multimers; (8) patient V449 with full-range multimers.