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A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level

Balbin, Milagros ; Freije, José P ; Abrahamson, Magnus LU orcid ; Velasco, Gloria ; Grubb, Anders LU orcid and Lopez-Otin, Carlos (1993) In Human Genetics 90(6). p.668-669
Abstract
A polymorphism in the coding region of the human cystatin D gene has been detected by direct sequencing of amplified DNA from different individuals. The variation, resulting from a T/C transition in exon 1 of the gene, causes an amino acid variation, Cys/Arg, at the protein level. An allele-specific oligonucleotide hybridization assay was developed and used to demonstrate this polymorphism in the population. The deduced frequencies were 0.55 and 0.45 for the Cys and Arg variant-encoding alleles, respectively.
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author
; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
90
issue
6
pages
668 - 669
publisher
Springer
external identifiers
  • scopus:0027532301
ISSN
1432-1203
DOI
10.1007/BF00202491
language
English
LU publication?
yes
id
b6a0ecd9-da63-4a19-b309-0a87b322a637 (old id 1107635)
date added to LUP
2016-04-01 17:09:26
date last changed
2025-10-14 09:07:56
@article{b6a0ecd9-da63-4a19-b309-0a87b322a637,
  abstract     = {{A polymorphism in the coding region of the human cystatin D gene has been detected by direct sequencing of amplified DNA from different individuals. The variation, resulting from a T/C transition in exon 1 of the gene, causes an amino acid variation, Cys/Arg, at the protein level. An allele-specific oligonucleotide hybridization assay was developed and used to demonstrate this polymorphism in the population. The deduced frequencies were 0.55 and 0.45 for the Cys and Arg variant-encoding alleles, respectively.}},
  author       = {{Balbin, Milagros and Freije, José P and Abrahamson, Magnus and Velasco, Gloria and Grubb, Anders and Lopez-Otin, Carlos}},
  issn         = {{1432-1203}},
  language     = {{eng}},
  number       = {{6}},
  pages        = {{668--669}},
  publisher    = {{Springer}},
  series       = {{Human Genetics}},
  title        = {{A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level}},
  url          = {{http://dx.doi.org/10.1007/BF00202491}},
  doi          = {{10.1007/BF00202491}},
  volume       = {{90}},
  year         = {{1993}},
}