DMD c.5503C>T ;(p.Q1835*)

Variant ID: X-32364143-G-A

NM_004006.2(DMD):c.5503C>T;(p.Q1835*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine
Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J
Publication Date: 2018-01

Variant appearance in text: DMD: 5503C>T
PubMed Link: 29874176
Variant Present in the following documents:
  • hcg-11-e001782-s001.pdf
View BVdb publication page



Contribution of human muscle-derived cells to skeletal muscle regeneration in dystrophic host mice.

Plos One
Meng, Jinhong J; Adkin, Carl F CF; Xu, Shi-wen SW; Muntoni, Francesco F; Morgan, Jennifer E JE
Publication Date: 2011-03-09

Variant appearance in text: DMD: Gln1835X
PubMed Link: 21408080
Variant Present in the following documents:
  • Main text
  • pone.0017454.pdf
View BVdb publication page