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Autor:
Anna Pastore, Fiorella Piemonte, Chiara Aiello, Aurora Pujol, Giulia Tozzi, Enrico Bertini, Sara Petrillo, Marco Cappa
Publikováno v:
Molecular Genetics and Metabolism; Vol 109
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism
Background X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues. Recent evidence shows that oxidati
Autor:
Virginie Vauthier, Christèle Dubourg, Julie Dam, Hubert Journel, Sylvie Jaillard, Ralf Jockers
Publikováno v:
Molecular Genetics and Metabolism; Vol 106
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
Molecular Genetics and Metabolism, Elsevier, 2012, 106 (3), pp.345-50. ⟨10.1016/j.ymgme.2012.04.026⟩
International audience; CONTEXT: The genomic organization of the LEPR gene is complex and generates three independent transcripts whose respective functions are still poorly understood. METHODS/RESULTS: We describe here a 7-year old patient with a ho