Advanced

An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism

Balbin, Milagros; Grubb, Anders LU and Abrahamson, Magnus LU (1993) In Human Genetics 92(2). p.206-207
Abstract
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.
Please use this url to cite or link to this publication:
author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
92
issue
2
pages
206 - 207
publisher
Springer
external identifiers
  • scopus:0027208579
ISSN
1432-1203
DOI
10.1007/BF00219694
language
English
LU publication?
yes
id
6d085e66-dbc7-46b4-a5bc-bcd921ef557d (old id 1107652)
date added to LUP
2008-07-31 14:10:14
date last changed
2017-01-01 06:38:21
@article{6d085e66-dbc7-46b4-a5bc-bcd921ef557d,
  abstract     = {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.},
  author       = {Balbin, Milagros and Grubb, Anders and Abrahamson, Magnus},
  issn         = {1432-1203},
  language     = {eng},
  number       = {2},
  pages        = {206--207},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {An Ala/Thr variation in the coding region of the human cystatin C gene (CST3) detected as a Sst II polymorphism},
  url          = {http://dx.doi.org/10.1007/BF00219694},
  volume       = {92},
  year         = {1993},
}