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The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20

✍ Scribed by Eiichi Saitoh; Linda M. Sabatini; Roger L. Eddy; Thomas B. Shows; Edwin A. Azen; Satoko Isemura; Kazuo Sanada


Book ID
115761579
Publisher
Elsevier Science
Year
1989
Tongue
English
Weight
609 KB
Volume
162
Category
Article
ISSN
0006-291X

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An Ala/Thr variation in the coding regio
✍ Milagros BalbΓ­n; Anders Grubb; Magnus Abrahamson πŸ“‚ Article πŸ“… 1993 πŸ› Springer 🌐 English βš– 157 KB

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