Article
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
Neurology - 1 Jun 1991
Ii S, Minnerath S, Ii K, Dyck P J, Sommer S S
Abstract excerpt
We analyzed 11 consecutive unrelated cases of polyneuropathy due to transthyretin amyloidosis. Direct sequencing of the promoter region, exons, and splice junctions revealed that each patient was heterozygous for a mutation: six patients had valine 30 substituted by methionine (V30----M; Portugue...
Topics
- Aged
- Alleles
- Amyloidosis
- Base Sequence
- DNA Probes
- Female
- Humans
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Prealbumin