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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 ; Velasco, Gloria; Grubb, Anders LU 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
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
2008-07-31 13:56:49
date last changed
2017-11-19 04:15:18
@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},
  volume       = {90},
  year         = {1993},
}