An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism
Research output: Contribution to journal › Article
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, thus allowing the design of a rapid polymerase chain reaction assay for analysis of this polymorphism in the population.
|Research areas and keywords||
Subject classification (UKÄ) – MANDATORY
|Publication status||Published - 1993|