A sequence variation in the human cystatin D gene resulting in an amino acid (Cys/Arg) polymorphism at the protein level
(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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1107635
- author
- Balbin, Milagros ; Freije, José P ; Abrahamson, Magnus LU ; Velasco, Gloria ; Grubb, Anders LU and Lopez-Otin, Carlos
- organization
- publishing date
- 1993
- 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
- 2021-02-07 03:11:33
@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}}, }