DMD c.9459_9462del ;(p.C3153*)

Variant ID: X-31227715-TCAAA-T

NM_004006.2(DMD):c.9459_9462del;(p.C3153*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Non-Ambulant Duchenne Patients Theoretically Treatable by Exon 53 Skipping have Severe Phenotype.

Journal Of Neuromuscular Diseases
Servais, Laurent L; Montus, Marie M; Guiner, Caroline Le CL; Ben Yaou, Rabah R; Annoussamy, Mélanie M; Moraux, Amélie A; Hogrel, Jean-Yves JY; Seferian, Andreea M AM; Zehrouni, Karima K; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Vanhulle, Catherine C; Laugel, Vincent V; Butoianu, Nina N; Cuisset, Jean-Marie JM; Sabouraud, Pascal P; Cances, Claude C; Klein, Andrea A; Leturcq, France F; Moullier, Philippe P; Voit, Thomas T
Publication Date: 2015-09-02

Variant appearance in text: DMD: 9459_9462del
PubMed Link: 27858743
Variant Present in the following documents:
  • Main text
View BVdb publication page



Upper limb strength and function changes during a one-year follow-up in non-ambulant patients with Duchenne Muscular Dystrophy: an observational multicenter trial.

Plos One
Seferian, Andreea Mihaela AM; Moraux, Amélie A; Annoussamy, Mélanie M; Canal, Aurélie A; Decostre, Valérie V; Diebate, Oumar O; Le Moing, Anne-Gaëlle AG; Gidaro, Teresa T; Deconinck, Nicolas N; Van Parys, Frauke F; Vereecke, Wendy W; Wittevrongel, Sylvia S; Mayer, Michèle M; Maincent, Kim K; Desguerre, Isabelle I; Thémar-Noël, Christine C; Cuisset, Jean-Marie JM; Tiffreau, Vincent V; Denis, Severine S; Jousten, Virginie V; Quijano-Roy, Susana S; Voit, Thomas T; Hogrel, Jean-Yves JY; Servais, Laurent L
Publication Date: 2015

Variant appearance in text: DMD: 9459_9462del
PubMed Link: 25643053
Variant Present in the following documents:
  • Main text
  • pone.0113999.pdf
View BVdb publication page