CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent

Autores
Pérez, Martín M.; Luna, María Cecilia; Pivetta, Omar H.; Keyeux, Genoveva
Año de publicación
2007
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Fil: Pérez, Martín M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Luna, María Cecilia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Keyeux, Genoveva. Universidad Nacional de Colombia. Instituto de Genética; Bogotá, Colombia.
Cystic Fibrosis (CF) is the most prevalent Mendelian disorder in European populations. Despite the fact that many Latin American countries have a predominant population of European-descent, CF has remained an unknown entity until recently. Argentina and Brazil have detected the first patients around three decades ago, but in most countries this disease has remained poorly documented. Recently, other countries started publishing their results.
Materia
Fibrosis Quística
Regulador de Conductancia de Transmembrana de Fibrosis Quística
Polimorfismo Genético
Nivel de accesibilidad
acceso abierto
Condiciones de uso
none
Repositorio
Sistema de Gestión del Conocimiento ANLIS MALBRÁN
Institución
Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
OAI Identificador
oai:sgc.anlis.gob.ar:123456789/2178
Acceder
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network_name_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
spelling CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continentPérez, Martín M.Luna, María CeciliaPivetta, Omar H.Keyeux, GenovevaFibrosis QuísticaRegulador de Conductancia de Transmembrana de Fibrosis QuísticaPolimorfismo GenéticoFil: Pérez, Martín M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Luna, María Cecilia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.Fil: Keyeux, Genoveva. Universidad Nacional de Colombia. Instituto de Genética; Bogotá, Colombia.Cystic Fibrosis (CF) is the most prevalent Mendelian disorder in European populations. Despite the fact that many Latin American countries have a predominant population of European-descent, CF has remained an unknown entity until recently. Argentina and Brazil have detected the first patients around three decades ago, but in most countries this disease has remained poorly documented. Recently, other countries started publishing their results.2007-05info:ar-repo/semantics/articuloinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdf1569-1993https://www.cysticfibrosisjournal.com/action/showPdf?pii=S1569-1993%2806%2900119-6http://sgc.anlis.gob.ar/handle/123456789/217810.1016/j.jcf.2006.07.004Journal of cystic fibrosisnoneinfo:eu-repo/semantics/openAccessengreponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁNinstname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"instacron:ANLIS2025-09-29T14:30:41Zoai:sgc.anlis.gob.ar:123456789/2178Institucionalhttp://sgc.anlis.gob.ar/Organismo científico-tecnológicoNo correspondehttp://sgc.anlis.gob.ar/oai/biblioteca@anlis.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:a2025-09-29 14:30:42.175Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"false
dc.title.none.fl_str_mv CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
title CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
spellingShingle CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
Pérez, Martín M.
Fibrosis Quística
Regulador de Conductancia de Transmembrana de Fibrosis Quística
Polimorfismo Genético
title_short CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
title_full CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
title_fullStr CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
title_full_unstemmed CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
title_sort CFTR gene analysis in Latin American CF patients: heterogeneous origin and distribution of mutations across the continent
dc.creator.none.fl_str_mv Pérez, Martín M.
Luna, María Cecilia
Pivetta, Omar H.
Keyeux, Genoveva
author Pérez, Martín M.
author_facet Pérez, Martín M.
Luna, María Cecilia
Pivetta, Omar H.
Keyeux, Genoveva
author_role author
author2 Luna, María Cecilia
Pivetta, Omar H.
Keyeux, Genoveva
author2_role author
author
author
dc.subject.none.fl_str_mv Fibrosis Quística
Regulador de Conductancia de Transmembrana de Fibrosis Quística
Polimorfismo Genético
topic Fibrosis Quística
Regulador de Conductancia de Transmembrana de Fibrosis Quística
Polimorfismo Genético
dc.description.none.fl_txt_mv Fil: Pérez, Martín M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Luna, María Cecilia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Pivetta, Omar H. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
Fil: Keyeux, Genoveva. Universidad Nacional de Colombia. Instituto de Genética; Bogotá, Colombia.
Cystic Fibrosis (CF) is the most prevalent Mendelian disorder in European populations. Despite the fact that many Latin American countries have a predominant population of European-descent, CF has remained an unknown entity until recently. Argentina and Brazil have detected the first patients around three decades ago, but in most countries this disease has remained poorly documented. Recently, other countries started publishing their results.
description Fil: Pérez, Martín M. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
publishDate 2007
dc.date.none.fl_str_mv 2007-05
dc.type.none.fl_str_mv info:ar-repo/semantics/articulo
info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv 1569-1993
https://www.cysticfibrosisjournal.com/action/showPdf?pii=S1569-1993%2806%2900119-6
http://sgc.anlis.gob.ar/handle/123456789/2178
10.1016/j.jcf.2006.07.004
identifier_str_mv 1569-1993
10.1016/j.jcf.2006.07.004
url https://www.cysticfibrosisjournal.com/action/showPdf?pii=S1569-1993%2806%2900119-6
http://sgc.anlis.gob.ar/handle/123456789/2178
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Journal of cystic fibrosis
dc.rights.none.fl_str_mv none
info:eu-repo/semantics/openAccess
rights_invalid_str_mv none
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname:Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron:ANLIS
reponame_str Sistema de Gestión del Conocimiento ANLIS MALBRÁN
collection Sistema de Gestión del Conocimiento ANLIS MALBRÁN
instname_str Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
instacron_str ANLIS
institution ANLIS
repository.name.fl_str_mv Sistema de Gestión del Conocimiento ANLIS MALBRÁN - Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbrán"
repository.mail.fl_str_mv biblioteca@anlis.gov.ar
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score 12.559606

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