File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Correlation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations

TitleCorrelation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutations
Authors
Issue Date1995
PublisherMosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpeds
Citation
Journal Of Pediatrics, 1995, v. 127 n. 5, p. 705-710 How to Cite?
AbstractObjective: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population. Results: There was no difference in sweat chloride value between classes of CFTR mutations that produce no protein (class I), fail to reach the apical membrane because of defective processing (class II), or produce protein that fails to respond to cyclic adenosine monophosphate (class III). Those mutations that produce a cyclic adenosine monophosphate- responsive channel with reduced conductance (class IV) were associated with a significantly lower, intermediate sweat chloride value. However, patients with the mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) had sweat chloride concentrations similar to those in classes I to III. Conclusion: Studies of differences in chloride conductance between functional classes of CFTR mutations provide insight into phenotypic expression of the disease.
Persistent Identifierhttp://hdl.handle.net/10722/44286
ISSN
2015 Impact Factor: 3.89
2015 SCImago Journal Rankings: 1.849
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorWilschanski, Men_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorMarkiewicz, Den_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorCorey, Men_HK
dc.contributor.authorLevison, Hen_HK
dc.contributor.authorDurie, PRen_HK
dc.date.accessioned2007-09-12T03:50:40Z-
dc.date.available2007-09-12T03:50:40Z-
dc.date.issued1995en_HK
dc.identifier.citationJournal Of Pediatrics, 1995, v. 127 n. 5, p. 705-710en_HK
dc.identifier.issn0022-3476en_HK
dc.identifier.urihttp://hdl.handle.net/10722/44286-
dc.description.abstractObjective: To compare differences in epithelial chloride conductance according to class of mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Methods: We evaluated the relationship between the functional classes of CFTR mutations and chloride conductance using the first diagnostic sweat chloride concentration in a large cystic fibrosis (CF) population. Results: There was no difference in sweat chloride value between classes of CFTR mutations that produce no protein (class I), fail to reach the apical membrane because of defective processing (class II), or produce protein that fails to respond to cyclic adenosine monophosphate (class III). Those mutations that produce a cyclic adenosine monophosphate- responsive channel with reduced conductance (class IV) were associated with a significantly lower, intermediate sweat chloride value. However, patients with the mutations that cause reduced synthesis or partially defective processing of normal CFTR (class V) had sweat chloride concentrations similar to those in classes I to III. Conclusion: Studies of differences in chloride conductance between functional classes of CFTR mutations provide insight into phenotypic expression of the disease.en_HK
dc.languageengen_HK
dc.publisherMosby, Inc. The Journal's web site is located at http://www.elsevier.com/locate/jpedsen_HK
dc.relation.ispartofJournal of Pediatricsen_HK
dc.subject.meshChlorides - analysisen_HK
dc.subject.meshCystic Fibrosis - classification - genetics - metabolismen_HK
dc.subject.meshCystic Fibrosis Transmembrane Conductance Regulator - classification - geneticsen_HK
dc.subject.meshGenes, Regulator - geneticsen_HK
dc.subject.meshMutationen_HK
dc.titleCorrelation of sweat chloride concentration with classes of the cystic fibrosis transmembrane conductance regulator gene mutationsen_HK
dc.typeArticleen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturelink_to_subscribed_fulltexten_HK
dc.identifier.doi10.1016/S0022-3476(95)70157-5en_HK
dc.identifier.pmid7472820en_HK
dc.identifier.scopuseid_2-s2.0-0028860909en_HK
dc.identifier.volume127en_HK
dc.identifier.issue5en_HK
dc.identifier.spage705en_HK
dc.identifier.epage710en_HK
dc.identifier.isiWOS:A1995TD93100006-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridWilschanski, M=6701812857en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridMarkiewicz, D=7007146509en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridCorey, M=7005819978en_HK
dc.identifier.scopusauthoridLevison, H=6505739271en_HK
dc.identifier.scopusauthoridDurie, PR=7005360997en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats