Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.
| Autor: | Nakakuki, Miyuki1, Fujiki, Kotoyo2, Yamamoto, Akiko1, Ko, Shigeru BH3, Yi, Lanjuan1, Ishiguro, Mariko1, Yamaguchi, Makoto1, Kondo, Shiho1, Maruyama, Shinsuke4, Yanagimoto, Kosuke4, Naruse, Satoru5, Ishiguro, Hiroshi1 |
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| Zdroj: | Journal of Human Genetics. Jul2012, Vol. 57 Issue 7, p427-433. 7p. |
| Databáze: | Academic Search Ultimate |
| Externí odkaz: |
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