Publications:

Antisense Oligonucleotide-Mediated Exon-skipping Therapies: Precision Medicine Spreading from Duchenne Muscular Dystrophy.

Jma Journal

Matsuo, Masafumi M

Publication Date: 2021-07-15

Variant appearance in text: DMD: 3631G>T; E1211X

PubMed Link: 34414317

Variant Present in the following documents:

• Main text
• 2433-3298-4-3-0232.pdf

View BVdb publication page

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: 3631G>T; Glu1211*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

View BVdb publication page

Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation

Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB

Publication Date: 2011-03

Variant appearance in text: DMD: 3631G>T

PubMed Link: 21972111

Variant Present in the following documents:

• Main text

View BVdb publication page