Concepedia

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

Miyuki Nakakuki, Kotoyo Fujiki, Akiko Yamamoto, Shigeru B. H. Ko, Lanjuan Yi, Mariko Ishiguro, Makoto Yamaguchi, Shiho Kondo, Shinsuke Maruyama, Kosuke Yanagimoto,

Journal of Human Genetics · 2012 · 13 citations · 16 references

DOI

Concepts

References

16

Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report

Philip M. Farrell, Beryl J. Rosenstein, Terry B. White et al. · The Journal of Pediatrics · 2008 · 1.1K citations · Full text

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Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA

Chin-Shyan Chu, Bruce C. Trapnell, S M Curristin et al. · Nature Genetics · 1993 · 518 citations

, , +13

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Michael S. Watson, Garry R. Cutting, Robert J. Desnick et al. · Genetics in Medicine · 2004 · 479 citations · Full text

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Diagnostic Sweat Testing: The Cystic Fibrosis Foundation Guidelines

Vicky A. LeGrys, James R. Yankaskas, Lynne M. Quittell et al. · The Journal of Pediatrics · 2007 · 306 citations · Full text

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The Estimated Incidence of Cystic Fibrosis in Japan

Y. Yamashiro, T Shimizu, S. Oguchi et al. · Journal of Pediatric Gastroenterology and Nutrition · 1997 · 151 citations

, , +12