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J-GLOBAL ID：201902286699238668   Reference number：19A0079719

Screening for Regulatory Variants in 460 kb Encompassing the CFTR Locus in Cystic Fibrosis Patients

嚢胞性線維症患者におけるCFTR遺伝子座を包含する460kbの調節変異体のスクリーニング【JST・京大機械翻訳】

Author (14)： Kerschner Jenny L. (Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio) ,  Ghosh Sujana (Human Molecular Genetics Program, Lurie Children’s Research Center, Chicago, Illinois) ,  Ghosh Sujana (Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois) ,  Paranjapye Alekh (Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio) ,  Cosme Wilmel R. (Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio) ,  Audrezet Marie-Pierre (INSERM U1078, Brest, France) ,  Nakakuki Miyuki (Department of Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ishiguro Hiroshi (Department of Human Nutrition, Nagoya University Graduate School of Medicine, Nagoya, Japan) ,  Ferec Claude (INSERM U1078, Brest, France) ,  Rommens Johanna (Program in Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada) ,  Rommens Johanna (Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada) ,  Harris Ann (Department of Genetics and Genome Sciences, Case Western Reserve University, Cleveland, Ohio) ,  Harris Ann (Human Molecular Genetics Program, Lurie Children’s Research Center, Chicago, Illinois) ,  Harris Ann (Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois)
Material： Journal of Molecular Diagnostics
Volume： 21  Issue： 1  Page： 70-80  Publication year： 2019 
JST Material Number： W3144A  ISSN： 1525-1578  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： It is estimated that up to 5% ...

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Thesaurus term： *gene ,  reporter gene ,  transcription factor ,  allele ,  conductance ,  promoter (genetics) ,  *Cystic Fibrosis ,  *screening (inspection) ,  optimization ,  gene expression ,  targeting ,  luciferase assay ,  bioinformatics ,  Untranslated Regions ,  *CFTR ,  modification ,  molecular genetic phenomenon

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (7)： 嚢胞性線維症 ,  患者 ,  CFTR ,  遺伝子座 ,  調節 ,  変異体 ,  スクリーニング