Article
An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a SstII polymorphism.
Human genetics - 1 Sept 1993
Balbín M, Grubb A, Abrahamson M
Abstract excerpt
A DNA variation in the coding region of the human cystatin C gene has been detected by direct sequencing. The polymorphism, a G/A transition, leads to an Ala/Thr variation in the penultimate amino acid of the signal peptide. The base substitution results in the loss of a SstII restriction site, t...
Topics
- Alanine
- Alleles
- Base Sequence
- Cerebral Amyloid Angiopathy
- Chromosomes, Human, Pair 20
- Cystatin C
- Cystatins
- Deoxyribonucleases, Type II Site-Specific
- Gene Frequency
- Humans
- Molecular Sequence Data
- Point Mutation