Article
A novel transthyretin mutation at position 30 (Leu for Val) associated with familial amyloidotic polyneuropathy.
Biochemical and biophysical research communications - 31 Aug 1992
Murakami T, Atsumi T, Maeda S, Tanase S, Ishikawa K, Mita S, Kumamoto T, Araki S, Ando M
Abstract excerpt
A novel transthyretin (TTR) mutation associated with familial amyloidotic polyneuropathy was detected in a Japanese patient. Single-strand conformation polymorphism analysis and sequence analysis of polymerase chain reaction (PCR)-amplified exons of the patient's TTR gene revealed a point mutatio...
Topics
- Amyloidosis
- Base Sequence
- Exons
- Female
- Heterozygote
- Humans
- Leucine
- Middle Aged
- Molecular Sequence Data
- Mutation
- Nervous System Diseases
- Nucleic Acid Conformation
- Polymerase Chain Reaction
- Prealbumin
- Valine