Article
Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.
Human genetics - 1 Jun 1992
Nordvåg B Y, Husby G, Ranløv I, el-Gewely M R
Abstract excerpt
Familial amyloid cardiomyopathy in a Danish kindred is associated with a specific mutation (Met for Leu111) in the transthyretin (TTR) gene, causing the loss of a recognition site for the restriction enzyme DdeI in the gene. We describe a diagnostic test for the molecular detection of this mutation. A sequence of the TTR gene containing the mutation was amplified by the polymerase chain reaction from isolated...
Topics
- Amyloidosis
- Base Sequence
- Cardiomyopathies
- DNA-Cytosine Methylases
- Denmark
- Heterozygote
- Humans
- Methionine
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides