Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Roberta Russo, Antonella Gambale, Maria Rosaria Esposito, Maria Luisa Serra, Annaelena Troiano, Ilaria de Maggio, Mario Capasso, Lucio Luzzatto, Jean Delaunay, Hannah Tamary, Achille Iolascon

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Medicine & Life Sciences