Experience of carrier couples identified through a population‐based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay–Lac‐Saint‐Jean

Abstract excerpt

A pilot population-based carrier screening program started in 2010 in the Saguenay-Lac-Saint-Jean region of Quebec, Canada, for four recessive diseases with local founder effects (tyrosinemia type I, autosomal recessive spastic ataxia of Charlevoix-Saguenay, congenital lactic acidosis, and Andermann syndrome). OBJECTIVES: The objective of this study was to describe the experience of carrier couples identified...

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