DMD c.3544G>T ;(p.E1182*)

Variant ID: X-32472838-C-A

NM_004006.2(DMD):c.3544G>T;(p.E1182*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


2-Guanidino-quinazoline promotes the readthrough of nonsense mutations underlying human genetic diseases.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bidou, Laure L; Bugaud, Olivier O; Merer, Goulven G; Coupet, Matthieu M; Hatin, Isabelle I; Chirkin, Egor E; Karri, Sabrina S; Demais, Stéphane S; François, Pauline P; Cintrat, Jean-Christophe JC; Namy, Olivier O
Publication Date: 2022-08-30

Variant appearance in text: DMD: E1182X
PubMed Link: 35994666
Variant Present in the following documents:
  • pnas.2122004119.sapp.pdf
View BVdb publication page



Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.

Plos One
Finkel, Richard S RS; Flanigan, Kevin M KM; Wong, Brenda B; Bönnemann, Carsten C; Sampson, Jacinda J; Sweeney, H Lee HL; Reha, Allen A; Northcutt, Valerie J VJ; Elfring, Gary G; Barth, Jay J; Peltz, Stuart W SW
Publication Date: 2013

Variant appearance in text: DMD: E1182X
PubMed Link: 24349052
Variant Present in the following documents:
  • Main text
  • pone.0081302.pdf
View BVdb publication page