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Article: Cystic fibrosis in Uruguay
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TitleCystic fibrosis in Uruguay
 
AuthorsLuzardo, G4
Aznarez, I4
Crispino, B4
Mimbacas, A5 4
Martínez, L2
Poggio, R4
Zielenski, J1 3
Tsui, LC1 3
Cardoso, H4
 
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
 
CitationGenetics 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.
 
ISSN1676-5680
2012 Impact Factor: 0.994
2012 SCImago Journal Rankings: 0.334
 
Other Identifiershttp://www.funpecrp.com.br/gmr/year2002/vol1-1/pdf/gmr0019.pdf
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLuzardo, G
 
dc.contributor.authorAznarez, I
 
dc.contributor.authorCrispino, B
 
dc.contributor.authorMimbacas, A
 
dc.contributor.authorMartínez, L
 
dc.contributor.authorPoggio, R
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorTsui, LC
 
dc.contributor.authorCardoso, H
 
dc.date.accessioned2007-09-12T03:52:23Z
 
dc.date.available2007-09-12T03:52:23Z
 
dc.date.issued2002
 
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.
 
dc.description.naturelink_to_OA_fulltext
 
dc.identifier.citationGenetics And Molecular Research, 2002, v. 1 n. 1, p. 32-38 [How to Cite?]
 
dc.identifier.epage38
 
dc.identifier.issn1676-5680
2012 Impact Factor: 0.994
2012 SCImago Journal Rankings: 0.334
 
dc.identifier.issue1
 
dc.identifierhttp://www.funpecrp.com.br/gmr/year2002/vol1-1/pdf/gmr0019.pdf
 
dc.identifier.pmid14963811
 
dc.identifier.scopuseid_2-s2.0-2342439411
 
dc.identifier.spage32
 
dc.identifier.urihttp://hdl.handle.net/10722/44378
 
dc.identifier.volume1
 
dc.languageeng
 
dc.publisherFundacao de Pesquisas Cientificas de Ribeirao Preto. The Journal's web site is located at http://www.funpecrp.com.br/gmr
 
dc.publisher.placeBrazil
 
dc.relation.ispartofGenetics and Molecular Research
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshCystic Fibrosis - genetics
 
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - genetics
 
dc.subject.meshMutation - genetics
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshPolymorphism, Genetic
 
dc.subjectAutosomal genetic disease
 
dc.subjectCystic fibrosis
 
dc.subjectCystic fibrosis transmembrane conductance regulator mutations
 
dc.titleCystic fibrosis in Uruguay
 
dc.typeArticle
 
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<contributor.author>Mimbacas, A</contributor.author>
<contributor.author>Mart&#237;nez, L</contributor.author>
<contributor.author>Poggio, R</contributor.author>
<contributor.author>Zielenski, J</contributor.author>
<contributor.author>Tsui, LC</contributor.author>
<contributor.author>Cardoso, H</contributor.author>
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<description.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 &#916;F508 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: &#916;F508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, &#916;I507, 2789+5G&#8594;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.</description.abstract>
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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