Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis-Reference-Cited by-同舟云学术

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

Published:2012-05-10 Issue:7 Volume:57 Page:427-433
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Nakakuki Miyuki,Fujiki Kotoyo,Yamamoto Akiko,Ko Shigeru BH,Yi Lanjuan,Ishiguro Mariko,Yamaguchi Makoto,Kondo Shiho,Maruyama Shinsuke,Yanagimoto Kosuke,Naruse Satoru,Ishiguro Hiroshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/jhg201246.pdf

Reference23 articles.

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3. Watson, M. S., Cutting, G. R., Desnick, R. J., Driscoll, D. A., Klinger, K., Mennuti, M. et al Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet. Med. 6, 387–391 (2004).

4. Castellani, C., Cuppens, H., Macek, M., Cassiman, J. J., Kerem, E., Durie, P. et al Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. J. Cyst. Fibros. 7, 179–196 (2008).

5. Zielenski, J., Tsui, L. C. Cystic fibrosis: genotypic and phenotypic variations. Annu. Rev. Genet. 29, 777–807 (1995).

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