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Article: Cystic fibrosis in Uruguay

TitleCystic fibrosis in Uruguay
Authors
Luzardo, GAznarez, ICrispino, BMimbacas, AMartínez, LPoggio, RZielenski, JTsui, LCCardoso, H
KeywordsAutosomal genetic disease
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator mutations
Issue Date2002
PublisherFundacao de Pesquisas Cientificas de Ribeirao Preto. The Journal's web site is located at http://www.funpecrp.com.br/gmr
Citation
Genetics And Molecular Research, 2002, v. 1 n. 1, p. 32-38 How to Cite?
AbstractWe conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the ΔF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: ΔF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, ΔI507, 2789+5G→A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.
Persistent Identifierhttp://hdl.handle.net/10722/44378
ISSN
1676-5680
2023 Impact Factor: 0.6
2023 SCImago Journal Rankings: 0.173
Other Identifiers
http://www.funpecrp.com.br/gmr/year2002/vol1-1/pdf/gmr0019.pdf
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLuzardo, Gen_HK
dc.contributor.authorAznarez, Ien_HK
dc.contributor.authorCrispino, Ben_HK
dc.contributor.authorMimbacas, Aen_HK
dc.contributor.authorMartínez, Len_HK
dc.contributor.authorPoggio, Ren_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorCardoso, Hen_HK
dc.date.accessioned2007-09-12T03:52:23Z-
dc.date.available2007-09-12T03:52:23Z-
dc.date.issued2002en_HK
dc.identifierhttp://www.funpecrp.com.br/gmr/year2002/vol1-1/pdf/gmr0019.pdfen_HK
dc.identifier.citationGenetics And Molecular Research, 2002, v. 1 n. 1, p. 32-38en_HK
dc.identifier.issn1676-5680en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44378-
dc.description.abstractWe conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the ΔF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: ΔF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, ΔI507, 2789+5G→A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.en_HK
dc.languageengen_HK
dc.publisherFundacao de Pesquisas Cientificas de Ribeirao Preto. The Journal's web site is located at http://www.funpecrp.com.br/gmren_HK
dc.relation.ispartofGenetics and Molecular Researchen_HK
dc.subjectAutosomal genetic diseaseen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectCystic fibrosis transmembrane conductance regulator mutationsen_HK
dc.subject.meshCystic Fibrosis - geneticsen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - geneticsen_HK
dc.subject.meshMutation - geneticsen_HK
dc.subject.meshDNA Mutational Analysisen_HK
dc.subject.meshPolymorphism, Geneticen_HK
dc.titleCystic fibrosis in Uruguayen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_OA_fulltexten_HK
dc.identifier.pmid14963811-
dc.identifier.scopuseid_2-s2.0-2342439411en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-2342439411&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume1en_HK
dc.identifier.issue1en_HK
dc.identifier.spage32en_HK
dc.identifier.epage38en_HK
dc.publisher.placeBrazilen_HK
dc.identifier.scopusauthoridLuzardo, G=6507421393en_HK
dc.identifier.scopusauthoridAznarez, I=6506570199en_HK
dc.identifier.scopusauthoridCrispino, B=6507469935en_HK
dc.identifier.scopusauthoridMimbacas, A=6602272039en_HK
dc.identifier.scopusauthoridMartínez, L=7201889934en_HK
dc.identifier.scopusauthoridPoggio, R=6602330314en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridCardoso, H=7003560944en_HK
dc.identifier.issnl1676-5680-

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