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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 orcid and Abrahamson, Magnus LU orcid (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
; and
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
2016-04-01 15:22:02
date last changed
2025-10-14 11:55:01
@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}},
  doi          = {{10.1007/BF00219694}},
  volume       = {{92}},
  year         = {{1993}},
}