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A novel splice site FUS mutation in a familial ALS case: effects on protein expression.
Canosa, Antonio; Lomartire, Annarosa; De Marco, Giovanni; Grassano, Maurizio; Brunetti, Maura; Manera, Umberto; Vasta, Rosario; Salamone, Paolina; Fuda, Giuseppe; Sbaiz, Luca; Gallone, Salvatore; Moglia, Cristina; Calvo, Andrea; Chiò, Adriano.
Afiliação
  • Canosa A; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Lomartire A; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Neurology Unit 1, Turin, Italy.
  • De Marco G; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Grassano M; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Brunetti M; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Neurology Unit 1, Turin, Italy.
  • Manera U; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Vasta R; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Salamone P; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Fuda G; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Sbaiz L; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Gallone S; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
  • Moglia C; Department of Clinical Pathology, Laboratory of Genetics, Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Turin, Italy.
  • Calvo A; Azienda Ospedaliero-Universitaria Città della Salute e della Scienza di Torino, Neurology Unit 1, Turin, Italy.
  • Chiò A; "Rita Levi Montalcini" Department of Neuroscience, ALS Centre, University of Turin, Turin, Italy.
Article em En | MEDLINE | ID: mdl-33879000

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucócitos Mononucleares / Esclerose Lateral Amiotrófica Limite: Adult / Humans / Male / Middle aged Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Leucócitos Mononucleares / Esclerose Lateral Amiotrófica Limite: Adult / Humans / Male / Middle aged Idioma: En Ano de publicação: 2022 Tipo de documento: Article