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The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20

Abrahamson, Magnus LU ; Islam, M Quamrul; Szpirer, Josiane; Szpirer, Claude and Levan, Göran (1989) In Human Genetics 82(3). p.223-226
Abstract
Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a fulllength cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Human Genetics
volume
82
issue
3
pages
223 - 226
publisher
Springer
external identifiers
  • scopus:0024338979
ISSN
1432-1203
DOI
10.1007/BF00291159
language
English
LU publication?
yes
id
6013509c-1a95-44fd-a006-53140d1d95ac (old id 1104879)
date added to LUP
2008-08-07 09:27:59
date last changed
2017-08-27 05:15:32
@article{6013509c-1a95-44fd-a006-53140d1d95ac,
  abstract     = {Hereditary cystatin C amyloid angiopathy has recently been shown to be caused by a point mutation in the cystatin C gene. To determine the chromosomal localization of the gene, 20 human-rodent somatic cell hybrids and a fulllength cystatin C cDNA probe were used. Southern blot analysis of BamHI digested cell hybrid DNA revealed that the probe recognizes a 10.6 kb human specific fragment and that this fragment cosegregates with human chromosome 20. Therefore, the human cystatin C gene (CST3) was assigned to chromosome 20.},
  author       = {Abrahamson, Magnus and Islam, M Quamrul and Szpirer, Josiane and Szpirer, Claude and Levan, Göran},
  issn         = {1432-1203},
  language     = {eng},
  number       = {3},
  pages        = {223--226},
  publisher    = {Springer},
  series       = {Human Genetics},
  title        = {The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20},
  url          = {http://dx.doi.org/10.1007/BF00291159},
  volume       = {82},
  year         = {1989},
}