DMD c.4303G>T ;(p.E1435*)

Variant ID: X-32408229-C-A

NM_004006.2(DMD):c.4303G>T;(p.E1435*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Cdc2-like kinases: structure, biological function, and therapeutic targets for diseases.

Signal Transduction And Targeted Therapy
Song, Mengqiu M; Pang, Luping L; Zhang, Mengmeng M; Qu, Yingzi Y; Laster, Kyle Vaughn KV; Dong, Zigang Z
Publication Date: 2023-04-07

Variant appearance in text: DMD: 4303G>T
PubMed Link: 37029108
Variant Present in the following documents:
  • 41392_2023_Article_1409.pdf
View BVdb publication page



Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.

Life (Basel, Switzerland)
Niba, Emma Tabe Eko ETE; Awano, Hiroyuki H; Lee, Tomoko T; Takeshima, Yasuhiro Y; Shinohara, Masakazu M; Nishio, Hisahide H; Matsuo, Masafumi M
Publication Date: 2021-09-16

Variant appearance in text: DMD: 4303G>T
PubMed Link: 34575126
Variant Present in the following documents:
  • Main text
  • life-11-00978.pdf
View BVdb publication page



Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy.

Scientific Reports
Sako, Yukiya Y; Ninomiya, Kensuke K; Okuno, Yukiko Y; Toyomoto, Masayasu M; Nishida, Atsushi A; Koike, Yuka Y; Ohe, Kenji K; Kii, Isao I; Yoshida, Suguru S; Hashimoto, Naohiro N; Hosoya, Takamitsu T; Matsuo, Masafumi M; Hagiwara, Masatoshi M
Publication Date: 2017-05-30

Variant appearance in text: DMD: 4303G>T
PubMed Link: 28555643
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.

Nature Communications
Nishida, Atsushi A; Kataoka, Naoyuki N; Takeshima, Yasuhiro Y; Yagi, Mariko M; Awano, Hiroyuki H; Ota, Mitsunori M; Itoh, Kyoko K; Hagiwara, Masatoshi M; Matsuo, Masafumi M
Publication Date: 2011

Variant appearance in text: DMD: 4303G>T; Glu1435X
PubMed Link: 21556062
Variant Present in the following documents:
  • Main text
  • ncomms1306.pdf
View BVdb publication page