DMD c.568C>T ;(p.Q190*)

Variant ID: X-32827691-G-A

NM_004006.2(DMD):c.568C>T;(p.Q190*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Cellular senescence-mediated exacerbation of Duchenne muscular dystrophy.

Scientific Reports
Sugihara, Hidetoshi H; Teramoto, Naomi N; Nakamura, Katsuyuki K; Shiga, Takanori T; Shirakawa, Taku T; Matsuo, Masafumi M; Ogasawara, Masashi M; Nishino, Ichizo I; Matsuwaki, Takashi T; Nishihara, Masugi M; Yamanouchi, Keitaro K
Publication Date: 2020-10-12

Variant appearance in text: DMD: 568C>T; Q190X
PubMed Link: 33046751
Variant Present in the following documents:
  • 41598_2020_73315_MOESM1_ESM.pdf
View BVdb publication page



Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics
Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP
Publication Date: 2011-03-11

Variant appearance in text: DMD: 568C>T; Gln190X
PubMed Link: 21396098
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-37.pdf
View BVdb publication page