CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Julie Mollet(Hôpital Necker-Enfants Malades), Agnès Delahodde(Université Paris-Sud), Valérie Serre(Hôpital Necker-Enfants Malades), Dominique Chrétien(Hôpital Necker-Enfants Malades), Dimitri Schlemmer(Hôpital Necker-Enfants Malades), Anne Lombès(Inserm), Nathalie Boddaert(Hôpital Necker-Enfants Malades), Isabelle Desguerre(Hôpital Necker-Enfants Malades), Pascale de Lonlay(Hôpital Necker-Enfants Malades), Hélène Ogier de Baulny(Hôpital Robert-Debré), Arnold Münnich(Hôpital Necker-Enfants Malades), Agnès Rötig(Hôpital Necker-Enfants Malades)
The American Journal of Human Genetics
March 1, 2008
10.1016/j.ajhg.2007.12.022
Cited by 291Open Access
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