Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations

Detalhes bibliográficos
Autor(a) principal: Coelho,Janice Carneiro
Data de Publicação: 2000
Outros Autores: Giugliani,Roberto
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Genetics and Molecular Biology
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004
Resumo: Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool.
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spelling Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendationsSkin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool.Sociedade Brasileira de Genética2000-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004Genetics and Molecular Biology v.23 n.2 2000reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/S1415-47572000000200004info:eu-repo/semantics/openAccessCoelho,Janice CarneiroGiugliani,Robertoeng2000-09-22T00:00:00Zoai:scielo:S1415-47572000000200004Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2000-09-22T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false
dc.title.none.fl_str_mv Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
title Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
spellingShingle Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
Coelho,Janice Carneiro
title_short Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
title_full Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
title_fullStr Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
title_full_unstemmed Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
title_sort Fibroblasts of skin fragments as a tool for the investigation of genetic diseases: technical recommendations
author Coelho,Janice Carneiro
author_facet Coelho,Janice Carneiro
Giugliani,Roberto
author_role author
author2 Giugliani,Roberto
author2_role author
dc.contributor.author.fl_str_mv Coelho,Janice Carneiro
Giugliani,Roberto
description Skin biopsies are frequently indicated for investigation and/or confirmation of genetic disorders. Although relatively simple and noninvasive, these procedures require care in order to increase probability of success and to avoid patient discomfort and unnecessary repeated analyses and associated laboratory fees. The present report highlights the importance of skin biopsies in genetic disorder diagnosis and presents general rules for collecting, storing, transporting and processing samples. We recommend its reading to professionals intending to use this important and sometimes fundamental diagnostic tool.
publishDate 2000
dc.date.none.fl_str_mv 2000-06-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
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dc.identifier.uri.fl_str_mv http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572000000200004
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dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1415-47572000000200004
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv text/html
dc.publisher.none.fl_str_mv Sociedade Brasileira de Genética
publisher.none.fl_str_mv Sociedade Brasileira de Genética
dc.source.none.fl_str_mv Genetics and Molecular Biology v.23 n.2 2000
reponame:Genetics and Molecular Biology
instname:Sociedade Brasileira de Genética (SBG)
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reponame_str Genetics and Molecular Biology
collection Genetics and Molecular Biology
repository.name.fl_str_mv Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)
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