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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 orcid ; 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
; ; ; and
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
2016-04-01 15:54:57
date last changed
2025-10-14 09:22:53
@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}},
  doi          = {{10.1007/BF00291159}},
  volume       = {{82}},
  year         = {{1989}},
}