Retrospective molecular detection of tra
✍
Bjørn-Yngvar Nordvåg; Ida Ranløv; Hilde Monica Frostad Riise; Gunnar Husby; M. R
📂
Article
📅
1993
🏛
Springer
🌐
English
⚖ 497 KB
Severe familial amyloid cardiomyopathy (FAC) in a Danish kindred is associated with a specific mutation (Met for Leu 111) in the transthyretin (TTR) gene. The mutation causes the loss of a DdeI restriction site in the gene, allowing molecular diagnostic studies. We studied formalin-fixed, paraffin-e