Publications:

The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 5480T>A; Leu1827*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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FUBP1: a new protagonist in splicing regulation of the DMD gene.

Nucleic Acids Research

Miro, Julie J; Laaref, Abdelhamid Mahdi AM; Rofidal, Valérie V; Lagrafeuille, Rosyne R; Hem, Sonia S; Thorel, Delphine D; Méchin, Déborah D; Mamchaoui, Kamel K; Mouly, Vincent V; Claustres, Mireille M; Tuffery-Giraud, Sylvie S

Publication Date: 2015-02-27

Variant appearance in text: DMD: 5480T>A; Leu1827*

PubMed Link: 25662218

Variant Present in the following documents:

• Main text
• gkv086.pdf

View BVdb publication page