Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Decipher non‐canonical SPAST splicing mutations with the help of functional assays in patients affected by spastic paraplegia 4 (SPG4)

Flowchart showing the molecular approach used to decipher the non‐canonical splicing mutations.

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Veröffentlicht in:Clinical genetics 2022-08, Vol.102 (2), p.155-156
Hauptverfasser: Ferese, Rosangela, Scala, Simona, Suppa, Antonio, Campopiano, Rosa, Asci, Francesco, Chiaravalloti, Maria Antonietta, Zampogna, Alessandro, D'Alessio, Carmelo, Fittipaldi, Filomena, Buttari, Fabio, Di Pardo, Alba, Giardina, Emiliano, Zampatti, Stefania, Fornai, Francesco, Novelli, Giuseppe, Fanelli, Mirco, Zecca, Chiara, Logroscino, Giancarlo, Centonze, Diego, Gambardella, Stefano
Format: Artikel
Sprache:eng
Schlagworte:
Mutation
Spastic paraplegia
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Zusammenfassung:Flowchart showing the molecular approach used to decipher the non‐canonical splicing mutations.
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.14142