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Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease

dc.contributor.authorTANER, Hasan Emir
dc.contributor.authorKILINÇ, Ayşe Ayzıt
dc.contributor.authorAlishbayli, Gulizar
dc.contributor.authorCokugras, Haluk
dc.contributor.authorCokugras, Fugen Cullu
dc.date.accessioned2021-03-02T18:33:45Z
dc.date.available2021-03-02T18:33:45Z
dc.date.issued2020
dc.identifier.citationKILINÇ A. A. , Alishbayli G., TANER H. E. , Cokugras F. C. , Cokugras H., "Clinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease", PEDIATRICS INTERNATIONAL, cilt.62, sa.5, ss.629-633, 2020
dc.identifier.issn1328-8067
dc.identifier.otherav_27b29824-9b73-49ee-bb63-bc358ba62f27
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/5150
dc.identifier.urihttps://doi.org/10.1111/ped.14173
dc.description.abstractBackground Cystic fibrosis (CF) transmembrane conductance receptor (CFTR)-related disease is diagnosed in patients affected by CFTR dysfunction who do not fully meet the CF diagnostic criteria. Only 2% of all CF patients have CFTR-related disease. We define the demographic characteristics of such patients, described the performance of mutational analyses, and describe the clinical findings.
dc.language.isoeng
dc.subjectKlinik Tıp (MED)
dc.subjectPEDİATRİ
dc.subjectKlinik Tıp
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectDahili Tıp Bilimleri
dc.subjectÇocuk Sağlığı ve Hastalıkları
dc.titleClinical characteristics and genetic analysis of cystic fibrosis transmembrane conductance reseptor-related disease
dc.typeMakale
dc.relation.journalPEDIATRICS INTERNATIONAL
dc.contributor.departmentİstanbul Üniversitesi-Cerrahpaşa , Cerrahpaşa Tıp Fakültesi , Dahili Tıp Bilimleri Bölümü
dc.identifier.volume62
dc.identifier.issue5
dc.identifier.startpage629
dc.identifier.endpage633
dc.contributor.firstauthorID2280852


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