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  • Clinical and biochemical heterogeneity associated with fumarase deficiency.

    Published in:
    Human Mutation, 2011, v. 32, n. 9, p. 1046, doi. 10.1002/humu.21534
    By:
    • Ottolenghi, Chris;
    • Hubert, Laurence;
    • Allanore, Yannick;
    • Brassier, Anais;
    • Altuzarra, Cécilia;
    • Mellot-Draznieks, Caroline;
    • Bekri, Soumeya;
    • Goldenberg, Alice;
    • Veyrieres, Severine;
    • Boddaert, Nathalie;
    • Barbier, Valérie;
    • Valayannopoulos, Vassili;
    • Slama, Abdelhamid;
    • Chrétien, Dominique;
    • Ricquier, Daniel;
    • Marret, Stéphane;
    • Frebourg, Thierry;
    • Rabier, Daniel;
    • Munnich, Arnold;
    • de Keyzer, Yves
    Publication type:
    Article