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Non-syndromic isolated dominant optic atrophy caused by the p.R468C mutation in the AFG3 like matrix AAA peptidase subunit 2 gene.
Colavito, Davide; Maritan, Veronica; Suppiej, Agnese; Del Giudice, Elda; Mazzarolo, Monica; Miotto, Stefania; Farina, Sofia; Dalle Carbonare, Maurizio; Piermarocchi, Stefano; Leon, Alberta.
Afiliação
  • Colavito D; Research and Innovation Srl, I-35127 Padua, Italy.
  • Maritan V; Paediatric Low Vision Center, Women's and Children's Health Department, University of Padua, Italy.
  • Suppiej A; Child Neurology and Clinical Neurophysiology Unit, Pediatric University Hospital of Padua, I-35100 Padua, Italy.
  • Del Giudice E; Research and Innovation Srl, I-35127 Padua, Italy.
  • Mazzarolo M; Paediatric Low Vision Center, Women's and Children's Health Department, University of Padua, Italy.
  • Miotto S; ULSS 6 Euganea, phthalmology Unit, Camposampiero Hospital, I-35012 Padua, Italy.
  • Farina S; Research and Innovation Srl, I-35127 Padua, Italy.
  • Dalle Carbonare M; Research and Innovation Srl, I-35127 Padua, Italy.
  • Piermarocchi S; Neuroscience Department, University of Padua, I-35100 Padua, Italy.
  • Leon A; Research and Innovation Srl, I-35127 Padua, Italy.
Biomed Rep ; 7(5): 451-454, 2017 Nov.
Article em En | MEDLINE | ID: mdl-29181157

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biomed Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Biomed Rep Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Itália País de publicação: Reino Unido