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Material Type: Report
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Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variantsGigante, M ; Diella, S ; Santangelo, L ; Trevisson, E ; Acosta, M J ; Amatruda, M ; Finzi, G ; Caridi, G ; Murer, L ; Accetturo, M ; Ranieri, E ; Ghiggeri, G M ; Giordano, M ; Grandaliano, G ; Salviati, L ; Gesualdo, LClinical genetics, 2017, Vol.92 (2), p.224-226Texto completo disponível |