Mr. Almeida et Mj. Saraiva, TTR-LEU-64 IN AN FAP KINDRED IDENTIFIED BY PCR-RFLP ANALYSIS, AMYLOID-INTERNATIONAL JOURNAL OF EXPERIMENTAL AND CLINICAL INVESTIGATION, 1(3), 1994, pp. 184-185
A new kindred carrier of TTR Leu 64 is reported. The mutation, detecte
d by PCR amplified DNA sequencing of the propositus, was diagnosed in
other members of the family by PCR-RFLP analysis with the enzyme Apo I
.