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Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations

Jean Francois Papon , Isabelle Perrault , Andre Coste , Bruno Louis , Xavier Gerard et al.
Journal of Medical Genetics, 2010, 47 (12), pp.829. ⟨10.1136/jmg.2010.077883⟩
Journal articles hal-00560778v1
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MCAT Mutations Cause Nuclear LHON-like Optic Neuropathy

Sylvie Gerber , Christophe Orssaud , Josseline Kaplan , Catrine Johansson , Jean-Michel Rozet et al.
Genes, 2021, 12 (4), pp.521. ⟨10.3390/genes12040521⟩
Journal articles hal-03247014v1