Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients
Autor(a) principal: | |
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Data de Publicação: | 1993 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da FIOCRUZ (ARCA) |
Texto Completo: | https://www.arca.fiocruz.br/handle/icict/36817 |
Resumo: | Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil. |
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Miranda, Antonio B. deLlerena Junior, Juan ClintonDallalana, Ludma T.Moura Neto, Rodrigo S.Suffys, Philip N.Degrave, Wim M.2019-11-02T20:53:35Z2019-11-02T20:53:35Z1993MIRANDA, Antonio B. de et al. Use of PCR for the determination of the frequency of the ΔF508 mutation in Brasilian cistic fibrosis patients. Memórias do Instituto Oswaldo Cruz, Rio de Janeiro, v. 88, n. 2, p. 309-312, Apr./June 1993.0074-0276https://www.arca.fiocruz.br/handle/icict/3681710.1590/s0074-02761993000200022engFundação Oswaldo Cruz. Instituto Oswaldo Cruz.Fibrose císticaReação em cadeia de polimeraseDiagnósticoΔF508Cystic fibrosisΔF508DiagnosisPCRUse of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patientsinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleFundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Fernandes Figueira, Rio de Janeiro, RJ, Brasil.Universidade Federal do Rio de Janeiro. Instituto de Biologia. Departamento de Genética. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil.Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil.The delta F508 mutation in the cystic fibrosis (CF) gene was studied in a population of 18 Brazilian CF patients and their 17 families by use of PCR and differential hybridization with oligonucleotides. In a total of 34 chromosomes considered, 12 (35%) carried the F508 deletion, a frequency much lower than that reported in most other populations. As a consequence, CF in Brazil would be predominantly caused by mutations different from the F508 deletion.info:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZLICENSElicense.txtlicense.txttext/plain; charset=utf-82991https://www.arca.fiocruz.br/bitstream/icict/36817/1/license.txt5a560609d32a3863062d77ff32785d58MD51ORIGINALWinDegrave_JuanLLJunior_etal_IOC_1993.pdfWinDegrave_JuanLLJunior_etal_IOC_1993.pdfapplication/pdf166400https://www.arca.fiocruz.br/bitstream/icict/36817/2/WinDegrave_JuanLLJunior_etal_IOC_1993.pdf6cfd625a98f60e8a354db06bb3cdb341MD52TEXTWinDegrave_JuanLLJunior_etal_IOC_1993.pdf.txtWinDegrave_JuanLLJunior_etal_IOC_1993.pdf.txtExtracted texttext/plain4https://www.arca.fiocruz.br/bitstream/icict/36817/3/WinDegrave_JuanLLJunior_etal_IOC_1993.pdf.txtff4c8ff01d544500ea4bfea43e6108c1MD53icict/368172021-11-22 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dc.title.pt_BR.fl_str_mv |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
title |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
spellingShingle |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients Miranda, Antonio B. de Fibrose cística Reação em cadeia de polimerase Diagnóstico ΔF508 Cystic fibrosis ΔF508 Diagnosis PCR |
title_short |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
title_full |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
title_fullStr |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
title_full_unstemmed |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
title_sort |
Use of PCR for the determination of the frequency of the delta F508 mutation in Brazilian cystic fibrosis patients |
author |
Miranda, Antonio B. de |
author_facet |
Miranda, Antonio B. de Llerena Junior, Juan Clinton Dallalana, Ludma T. Moura Neto, Rodrigo S. Suffys, Philip N. Degrave, Wim M. |
author_role |
author |
author2 |
Llerena Junior, Juan Clinton Dallalana, Ludma T. Moura Neto, Rodrigo S. Suffys, Philip N. Degrave, Wim M. |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Miranda, Antonio B. de Llerena Junior, Juan Clinton Dallalana, Ludma T. Moura Neto, Rodrigo S. Suffys, Philip N. Degrave, Wim M. |
dc.subject.other.pt_BR.fl_str_mv |
Fibrose cística Reação em cadeia de polimerase Diagnóstico ΔF508 |
topic |
Fibrose cística Reação em cadeia de polimerase Diagnóstico ΔF508 Cystic fibrosis ΔF508 Diagnosis PCR |
dc.subject.en.pt_BR.fl_str_mv |
Cystic fibrosis ΔF508 Diagnosis PCR |
description |
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Departamento de Bioquímica e Biologia Molecular. Rio de Janeiro, RJ, Brasil. |
publishDate |
1993 |
dc.date.issued.fl_str_mv |
1993 |
dc.date.accessioned.fl_str_mv |
2019-11-02T20:53:35Z |
dc.date.available.fl_str_mv |
2019-11-02T20:53:35Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
MIRANDA, Antonio B. de et al. Use of PCR for the determination of the frequency of the ΔF508 mutation in Brasilian cistic fibrosis patients. Memórias do Instituto Oswaldo Cruz, Rio de Janeiro, v. 88, n. 2, p. 309-312, Apr./June 1993. |
dc.identifier.uri.fl_str_mv |
https://www.arca.fiocruz.br/handle/icict/36817 |
dc.identifier.issn.pt_BR.fl_str_mv |
0074-0276 |
dc.identifier.doi.none.fl_str_mv |
10.1590/s0074-02761993000200022 |
identifier_str_mv |
MIRANDA, Antonio B. de et al. Use of PCR for the determination of the frequency of the ΔF508 mutation in Brasilian cistic fibrosis patients. Memórias do Instituto Oswaldo Cruz, Rio de Janeiro, v. 88, n. 2, p. 309-312, Apr./June 1993. 0074-0276 10.1590/s0074-02761993000200022 |
url |
https://www.arca.fiocruz.br/handle/icict/36817 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.publisher.none.fl_str_mv |
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. |
publisher.none.fl_str_mv |
Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. |
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