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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

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
Authors
Issue Date2001
PublisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gte
Citation
Genetic Testing, 2001, v. 5 n. 3, p. 235-242 How to Cite?
Abstract
Cystic 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.
Persistent Identifierhttp://hdl.handle.net/10722/43555
ISSN
ISI Accession Number ID
References

 

Author Affiliations
  1. Hospital for Sick Children University of Toronto
DC FieldValueLanguage
dc.contributor.authorStrandvik, Ben_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorBjörck, Een_HK
dc.contributor.authorFallström, Men_HK
dc.contributor.authorGronowitz, Een_HK
dc.contributor.authorThountzouris, Jen_HK
dc.contributor.authorLindblad, Aen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorWahlström, Jen_HK
dc.contributor.authorTsui, LCen_HK
dc.date.accessioned2007-03-23T04:48:54Z-
dc.date.available2007-03-23T04:48:54Z-
dc.date.issued2001en_HK
dc.identifier.citationGenetic Testing, 2001, v. 5 n. 3, p. 235-242en_HK
dc.identifier.issn1090-6576en_HK
dc.identifier.urihttp://hdl.handle.net/10722/43555-
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.en_HK
dc.format.extent151376 bytes-
dc.format.extent25088 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherMary Ann Liebert, Inc Publishers. The Journal's web site is located at http://www.liebertpub.com/gteen_HK
dc.relation.ispartofGenetic Testingen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subject.meshCystic fibrosis - genetics - physiopathologyen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshMutation, missenseen_HK
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 mutationsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1090-6576&volume=5&issue=3&spage=235&epage=242&date=2001&atitle=Spectrum+of+mutations+in+the+CFTR+gene+of+patients+with+classical+and+atypical+forms+of+cystic+fibrosis+from+southwestern+Sweden:+identification+of+12+novel+mutationsen_HK
dc.identifier.emailWahlström, J: tsuilc@hkucc.hku.hken_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityWahlström, J=rp00058en_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1089/10906570152742290en_HK
dc.identifier.pmid11788090en_HK
dc.identifier.scopuseid_2-s2.0-18244405370en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-18244405370&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume5en_HK
dc.identifier.issue3en_HK
dc.identifier.spage235en_HK
dc.identifier.epage242en_HK
dc.identifier.isiWOS:000173136500010-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridStrandvik, B=7006666838en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridBjörck, E=6602140974en_HK
dc.identifier.scopusauthoridFallström, M=37092785200en_HK
dc.identifier.scopusauthoridGronowitz, E=6508028230en_HK
dc.identifier.scopusauthoridThountzouris, J=6504762206en_HK
dc.identifier.scopusauthoridLindblad, A=7005308003en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridWahlström, J=7102754167en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK

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