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Neonatal screening strategy for cystic fibrosis using immunoreactive trypsinogen and direct gene analysis

✍ Scribed by E Ranieri; RG Ryall; CP Morris; PV Nelson; WF Carey; AC Pollard; EF Robertson

Book ID
118890853
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
284 KB
Volume
38
Category
Article
ISSN
0020-7292

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Neonatal screening for cystic fibrosis:
Neonatal screening for cystic fibrosis: result of a pilot study using both immunoreactive trypsinogen and cystic fibrosis gene mutation analyses
✍ C. FΓ©rec; C. Verlingue; P. Parent; J. F. Morin; J. P. Codet; G. Rault; M. Dagorn πŸ“‚ Article πŸ“… 1995 πŸ› Springer 🌐 English βš– 700 KB

We have evaluated a two-tier neonatal cystic fibrosis (CF) screening of immunoreactive trypsinogen (IRT) followed by CFTR gene mutation analysis using a systematic scanning of exons 7, 10, and 11, and, if necessary, by direct DNA sequencing. Over an 18-month period we screened 32,300 neonates born i