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Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.
Merico, E; Schirinzi, E; Baldinotti, F; Govoni, A; Siciliano, G.
Afiliação
  • Merico E; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, via Roma 67, 56126, Pisa, Italy. elenamerico2@gmail.com.
  • Schirinzi E; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, via Roma 67, 56126, Pisa, Italy.
  • Baldinotti F; Laboratory of Molecular Genetics, Azienda Ospedaliero Universitaria Pisana, Pisa, Italy.
  • Govoni A; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, via Roma 67, 56126, Pisa, Italy.
  • Siciliano G; Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, via Roma 67, 56126, Pisa, Italy.
Acta Neurol Belg ; 123(5): 2031-2033, 2023 10.
Article em En | MEDLINE | ID: mdl-36175785
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Idioma: En Ano de publicação: 2023 Tipo de documento: Article