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NBS is aimed at early pre-symptomatic diagnosis of severe inherited diseases. CF NBS in France is based on IRT/DNA (CF 30 Elucigene)/IRT [1]. Detection of babies carrying one non-CF causing mutation (e.g. R117H) is one of the most negative impacts of DNA analysis [2]. To assess the relevance and feasibility of R117H removal (r). a. Describe the NBS carrying at least one R117H (T5, T7);...
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