Experimental design.

(A) Schematic representation of the construct transfected in human kidney HEK 293 cells. The position of primers is reported. (B) Predicted splicing (top) and mRNA product (bottom) in cells transfected with the normal construct. (C) Predicted splicing (top) and mRNA product (bottom) in cells transfected with the construct containing the A2395 mutation. Dashed boxes refer to exons. Closed loops indicate spliced RNA sequences.