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Article: Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

TitleCystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients
Authors
KeywordsCFTR
Cystic fibrosis
Mutation screening haplotypes
Turkish population
Issue Date2001
PublisherWayne State University Press.
Citation
Human Biology, 2001, v. 73 n. 2, p. 191-203 How to Cite?
AbstractIdentification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG) mT n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.
Persistent Identifierhttp://hdl.handle.net/10722/43554
ISSN
2015 Impact Factor: 0.857
2015 SCImago Journal Rankings: 0.562
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOnay, Ten_HK
dc.contributor.authorZielenski, Jen_HK
dc.contributor.authorTopaloglu, Oen_HK
dc.contributor.authorGokgoz, Nen_HK
dc.contributor.authorKayserili, Hen_HK
dc.contributor.authorApa, MYen_HK
dc.contributor.authorCamcioglu, Yen_HK
dc.contributor.authorCokugras, Hen_HK
dc.contributor.authorAkcakaya, Nen_HK
dc.contributor.authorTsui, LCen_HK
dc.contributor.authorKirdar, Ben_HK
dc.date.accessioned2007-03-23T04:48:53Z-
dc.date.available2007-03-23T04:48:53Z-
dc.date.issued2001en_HK
dc.identifier.citationHuman Biology, 2001, v. 73 n. 2, p. 191-203en_HK
dc.identifier.issn0018-7143en_HK
dc.identifier.urihttp://hdl.handle.net/10722/43554-
dc.description.abstractIdentification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG) mT n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.en_HK
dc.format.extent1597853 bytes-
dc.format.extent25088 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.languageengen_HK
dc.publisherWayne State University Press.en_HK
dc.relation.ispartofHuman Biologyen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectCFTRen_HK
dc.subjectCystic fibrosisen_HK
dc.subjectMutation screening haplotypesen_HK
dc.subjectTurkish populationen_HK
dc.subject.meshCystic fibrosis - ethnology - geneticsen_HK
dc.subject.meshCystic fibrosis transmembrane conductance regulator - geneticsen_HK
dc.subject.meshHaplotypes - geneticsen_HK
dc.subject.meshMutationen_HK
dc.subject.meshMicrosatellite repeatsen_HK
dc.titleCystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0018-7143&volume=73&issue=2&spage=191&epage=203&date=2001&atitle=Cystic+fibrosis+mutations+and+associated+haplotypes+in+Turkish+cystic+fibrosis+patientsen_HK
dc.identifier.emailTsui, LC: tsuilc@hkucc.hku.hken_HK
dc.identifier.authorityTsui, LC=rp00058en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.pmid11446424en_HK
dc.identifier.scopuseid_2-s2.0-0034940302en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034940302&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume73en_HK
dc.identifier.issue2en_HK
dc.identifier.spage191en_HK
dc.identifier.epage203en_HK
dc.identifier.isiWOS:000170822000003-
dc.identifier.scopusauthoridOnay, T=24479257900en_HK
dc.identifier.scopusauthoridZielenski, J=7003732699en_HK
dc.identifier.scopusauthoridTopaloglu, O=6508018998en_HK
dc.identifier.scopusauthoridGokgoz, N=6603504668en_HK
dc.identifier.scopusauthoridKayserili, H=8563919100en_HK
dc.identifier.scopusauthoridApa, MY=6505492416en_HK
dc.identifier.scopusauthoridCamcioglu, Y=6602950308en_HK
dc.identifier.scopusauthoridCokugras, H=6602698018en_HK
dc.identifier.scopusauthoridAkcakaya, N=6701576517en_HK
dc.identifier.scopusauthoridTsui, LC=7102754167en_HK
dc.identifier.scopusauthoridKirdar, B=7004321965en_HK

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