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Immunodeficiency mutation databases

Valiaho, J; Hershfield, M; Notarangelo, LD; Regueiro, JR; Roos, D; Smith, CIE; Villa, A and Vihinen, Mauno LU (2000) IXth Meeting of the European-Society-for-Immunodeficiencies In IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES p.207-213
Abstract
Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the... (More)
Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the scientist performing mutation analyses to continue to submit data to the registries. (Less)
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author
publishing date
type
Chapter in Book/Report/Conference proceeding
publication status
published
subject
in
IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES
pages
207 - 213
publisher
Medimond
conference name
IXth Meeting of the European-Society-for-Immunodeficiencies
external identifiers
  • wos:000167541600029
language
English
LU publication?
no
id
164f6b6c-120c-4230-a3dd-a4ce0547c86f (old id 3852244)
date added to LUP
2013-06-28 15:16:37
date last changed
2016-09-08 15:03:08
@inproceedings{164f6b6c-120c-4230-a3dd-a4ce0547c86f,
  abstract     = {Several immunodeficiency-related genes are known and a numb er of disease causing mutations have been identified. Immunodeficiency related mutation information have been collected into IDbases. We are currently maintaining 15 registries, which are available at http://www.uta.fi/imt/bioinfo/. The databases are available for the following disorders: adenosine deaminase, CD3 epsilon, CD3 gamma, JAK3, RAGI, RAG2, and ZAP-70 deficiencies, Bloom, X-linked hyper IgM and X-linked lymphoproliferative syndromes, X-linked agammaglobulinemia, and four forms of chronic granulomatous disease. The databases serve as knowledge bases for the disorders. They have been collected with the aid from the immunodeficiency research community and we ask the scientist performing mutation analyses to continue to submit data to the registries.},
  author       = {Valiaho, J and Hershfield, M and Notarangelo, LD and Regueiro, JR and Roos, D and Smith, CIE and Villa, A and Vihinen, Mauno},
  booktitle    = {IX MEETING OF THE EUROPEAN SOCIETY FOR IMMUNODEFICIENCIES},
  language     = {eng},
  pages        = {207--213},
  publisher    = {Medimond},
  title        = {Immunodeficiency mutation databases},
  year         = {2000},
}