Mutation screening by protein truncation test.

PTT analysis shows abnormal fragment 3 pattern in patient 2 and abnormal fragment 8 pattern in patients 5, 7, and 8 in comparison with the control (Co). (dashes) Wild-type, full-length products. (arrows) Abnormal bands. Nonspecific additional bands can be seen in some samples. Marker and molecular weights of the marker proteins (in kd) are shown on the right-hand side of the gels.