Art

J-GLOBAL ID：201202286009031446   Reference number：12A1218987

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis

嚢胞性線維症の日本人例の鼻腔用綿棒からCFTR転写産物のヘテロ接合の大欠失とスプライシング欠陥を検出

Author (12)： NAKAKUKI Miyuki (Nagoya Univ., Nagoya, JPN) ,  FUJIKI Kotoyo (Nagoya Univ. Arts and Sci., Nisshin, JPN) ,  YAMAMOTO Akiko (Nagoya Univ., Nagoya, JPN) ,  KO Shigeru BH (Nagoya Univ. Grduate School of Medicine, Nagoya, JPN) ,  YI Lanjuan (Nagoya Univ., Nagoya, JPN) ,  ISHIGURO Mariko (Nagoya Univ., Nagoya, JPN) ,  YAMAGUCHI Makoto (Nagoya Univ., Nagoya, JPN) ,  KONDO Shiho (Nagoya Univ., Nagoya, JPN) ,  MARUYAMA Shinsuke (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  YANAGIMOTO Kosuke (Kagoshima Univ. Graduate School of Medical and Dental Sci., Kagoshima, JPN) ,  NARUSE Satoru (Miyoshi Municipal Hospital, Miyoshi, JPN) ,  ISHIGURO Hiroshi (Nagoya Univ., Nagoya, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 57  Issue： 7  Page： 427-433  Publication year： Jul. 2012 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： sampling ,...
Semi thesaurus term： *Cystic Fibrosis Transmembrane Conductance Regulator ,...

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JST classification (2)： Genetic variation  (EC01030Y) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (23)：

• ROSENSTEIN, S. J. The diagnosis of cystic fibrosis : a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J. Pediatr. 1998, 132, 589-595
• FARRELL, P. M. Guidelines for diagnosis of cystic fibrosis in newborns through older adults : Cystic Fibrosis Foundation consensus report. J. Pediatr. 2008, 153, S4-S14
• WATSON, M. S. Cystic fibrosis population carrier screening : 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 2004, 6, 387-391
• CASTELLANI, C. Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 2008, 7, 179-196
• ZIELENSKI, J. Cystic fibrosis : genotypic and phenotypic variations. Annu. Rev. Genet. 1995, 29, 777-807

Terms in the title (10)： 嚢胞性線維症 ,  日本人 ,  鼻腔 ,  綿棒 ,  CFTR ,  転写産物 ,  ヘテロ接合 ,  欠失 ,  スプライシング ,  欠陥