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Article: Cystic fibrosis in Uruguay

TitleCystic fibrosis in Uruguay
Authors
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?
Abstract
We 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
2013 Impact Factor: 0.850
2013 SCImago Journal Rankings: 0.367
Other Identifiers
References

 

Author Affiliations
  1. University of Toronto
  2. Centro Hospitalario Pereira Rossell
  3. Hospital for Sick Children University of Toronto
  4. Instituto de Investigaciones Biologicas Clemente Estable
  5. Universidad de la Republica
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.pmid14963811en_HK
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

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