Detection of a large heterozygous deletion and a splicing...

Journal of Human Genetics 2012 / 7 Vol. 57; Iss. 7

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

Nakakuki, Miyuki, Fujiki, Kotoyo, Yamamoto, Akiko, Ko, Shigeru BH, Yi, Lanjuan, Ishiguro, Mariko, Yamaguchi, Makoto, Kondo, Shiho, Maruyama, Shinsuke, Yanagimoto, Kosuke, Naruse, Satoru, Ishiguro, Hir
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Volume:
57
Language:
english
Journal:
Journal of Human Genetics
DOI:
10.1038/jhg.2012.46
Date:
July, 2012
File:
PDF, 562 KB
english, 2012
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