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Article

Implementation of newborn screening for cystic fibrosis in Norway. Results from the first three years.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 May 2016

Lundman Emma, Gaup H Junita, Bakkeheim Egil, Olafsdottir Edda J, Rootwelt Terje, Storrøsten Olav Trond, Pettersen Rolf D

Abstract excerpt

BACKGROUND: Norway introduced newborn screening for cystic fibrosis (CF) March 1, 2012. We present results from the first three years of the national newborn CF screening program. METHODS: Positive primary screening of immunoreactive trypsinogen (IRT) was followed by DNA testing of the Cystic fibrosis transmembrane conductance regulator (CFTR) gene. Infants with two CFTR mutations were reported for diagnostic...

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PMID: 26795017
DOI: 10.1016/j.jcf.2015.12.017

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CFTR

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