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Article: Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
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TitleSpectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
 
AuthorsStrandvik, B1
Zielenski, J1
Björck, E1
Fallström, M1
Gronowitz, E1
Thountzouris, J1
Lindblad, A1
Markiewicz, D1
Wahlström, J1
Tsui, LC1
 
Issue Date2001
 
PublisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
 
CitationGenetic Testing, 2001, v. 5 n. 3, p. 235-242 [How to Cite?]
DOI: http://dx.doi.org/10.1089/10906570152742290
 
AbstractCystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (ΔF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G → T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant ΔF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
 
ISSN1090-6576
 
DOIhttp://dx.doi.org/10.1089/10906570152742290
 
ISI Accession Number IDWOS:000173136500010
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorStrandvik, B
 
dc.contributor.authorZielenski, J
 
dc.contributor.authorBjörck, E
 
dc.contributor.authorFallström, M
 
dc.contributor.authorGronowitz, E
 
dc.contributor.authorThountzouris, J
 
dc.contributor.authorLindblad, A
 
dc.contributor.authorMarkiewicz, D
 
dc.contributor.authorWahlström, J
 
dc.contributor.authorTsui, LC
 
dc.date.accessioned2007-03-23T04:48:54Z
 
dc.date.available2007-03-23T04:48:54Z
 
dc.date.issued2001
 
dc.description.abstractCystic fibrosis (CF) is caused by mutations in the CFTR gene. The spectrum of CFTR mutations varies between populations and depends on different factors, such as ethnic background and geographical location. The extensive CFTR mutation screening of 129 patients with classical or atypical CF from the south-western region of Sweden revealed the presence of 37 CFTR mutations, including 12 novel alleles. The overall mutation detection rate in this study population was 92%, the highest among all tested regions in Sweden. Eight mutations with a frequency above 1% (ΔF508, 394delTT, R117C, 3659delC, E60X, 1112delT, R764X, and 621 + 1G → T) accounted for 78% of CF chromosomes and have been recommended for inclusion in the CFTR mutation screening panel for molecular diagnosis of CF in this region. The multiple occurrence of specific CFTR alleles less common than the predominant ΔF508 mutation (394delTT, R117C, 3659delC) allowed for genotype-phenotype comparisons and revealed consistent relationships between these mutations and disease severity.
 
dc.description.naturepublished_or_final_version
 
dc.format.extent151376 bytes
 
dc.format.extent25088 bytes
 
dc.format.mimetypeapplication/pdf
 
dc.format.mimetypeapplication/msword
 
dc.identifier.citationGenetic Testing, 2001, v. 5 n. 3, p. 235-242 [How to Cite?]
DOI: http://dx.doi.org/10.1089/10906570152742290
 
dc.identifier.doihttp://dx.doi.org/10.1089/10906570152742290
 
dc.identifier.epage242
 
dc.identifier.isiWOS:000173136500010
 
dc.identifier.issn1090-6576
 
dc.identifier.issue3
 
dc.identifier.openurl
 
dc.identifier.pmid11788090
 
dc.identifier.scopuseid_2-s2.0-18244405370
 
dc.identifier.spage235
 
dc.identifier.urihttp://hdl.handle.net/10722/43555
 
dc.identifier.volume5
 
dc.languageeng
 
dc.publisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
 
dc.publisher.placeUnited States
 
dc.relation.ispartofGenetic Testing
 
dc.relation.referencesReferences in Scopus
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subject.meshCystic fibrosis - genetics - physiopathology
 
dc.subject.meshCystic fibrosis transmembrane conductance regulator - genetics
 
dc.subject.meshMutation
 
dc.subject.meshDna mutational analysis
 
dc.subject.meshMutation, missense
 
dc.titleSpectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: Identification of 12 novel mutations
 
dc.typeArticle
 
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Author Affiliations
  1. Hospital for Sick Children University of Toronto