In Vitro Studies of Non Poly Alanine PHOX2B Mutations Argue Against a Loss-of-Function Mechanism for Congenital Central Hypoventilation
Delphine Trochet, Yves Mathieu, Loic de Pontual, Ravi Savarirayan, Arnold Munnich, Jean-Francois Brunet, Stanislas Lyonnet, Christo Goridis, Jeanne Amiel
Human Mutation | WILEY | Published : 2009
We are thankful to the patients and their families for active participation in the study and to their treating physicians for referring them. We are grateful to Pr Kwang-Soo Kim for providing the PHOX2A reporter promoter construct. This study is supported by the Agence Nationale pour la Recherche (ANR). DT is funded by the Fondation pour la Recherche Medicale (FRM).