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Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy

This article examines the four tiered approach for Cystic Fibrosis Screening in France.

Title: Comprehensive CFTR gene analysis of the French cystic fibrosis screened newborn cohort: implications for diagnosis, genetic counseling, and mutation-specific therapy
Date: August 14, 2014
Authors: Marie Pierre Audrézet PhD, Anne Munck MD, Virginie Scotet PhD, Mireille Claustres MD, PhD, Michel Roussey MD, Dominique Delmas MA, Claude Férec MD, PhD, Marie Desgeorges, PharmD
Link: http://www.nature.com/gim/journal/vaop/ncurrent/full/gim2014113a.html