DMD c.3328G>T ;(p.E1110*)

Variant ID: X-32481660-C-A

NM_004006.2(DMD):c.3328G>T;(p.E1110*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Correction to: Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2021-06-02

Variant appearance in text: DMD: 3328G>T; Glu1110*
PubMed Link: 34078427
Variant Present in the following documents:
  • 13023_2021_1853_MOESM1_ESM.pdf
View BVdb publication page



The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One
Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V
Publication Date: 2020

Variant appearance in text: DMD: 3328G>T; Glu1110*
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page



Cardiovascular progenitor cells and tissue plasticity are reduced in a myocardium affected by Becker muscular dystrophy.

Orphanet Journal Of Rare Diseases
Pesl, Martin M; Jelinkova, Sarka S; Caluori, Guido G; Holicka, Maria M; Krejci, Jan J; Nemec, Petr P; Kohutova, Aneta A; Zampachova, Vita V; Dvorak, Petr P; Rotrekl, Vladimir V
Publication Date: 2020-03-05

Variant appearance in text: DMD: 3328G>T; Glu1110X
PubMed Link: 32138751
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1257.pdf
View BVdb publication page



Comprehensive genetic characteristics of dystrophinopathies in China.

Orphanet Journal Of Rare Diseases
Ma, Peipei P; Zhang, Shu S; Zhang, Hao H; Fang, Siying S; Dong, Yuru Y; Zhang, Yan Y; Hao, Weiwei W; Wu, Shiwen S; Zhao, Yuying Y
Publication Date: 2018-07-04

Variant appearance in text: DMD: 3328G>T; Glu1110*
PubMed Link: 29973226
Variant Present in the following documents:
  • 13023_2018_853_MOESM1_ESM.pdf
View BVdb publication page



Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

Human Mutation
Flanigan, Kevin M KM; Dunn, Diane M DM; von Niederhausern, Andrew A; Soltanzadeh, Payam P; Howard, Michael T MT; Sampson, Jacinda B JB; Swoboda, Kathryn J KJ; Bromberg, Mark B MB; Mendell, Jerry R JR; Taylor, Laura E LE; Anderson, Christine B CB; Pestronk, Alan A; Florence, Julaine M JM; Connolly, Anne M AM; Mathews, Katherine D KD; Wong, Brenda B; Finkel, Richard S RS; Bonnemann, Carsten G CG; Day, John W JW; McDonald, Craig C; , ; Weiss, Robert B RB
Publication Date: 2011-03

Variant appearance in text: DMD: 3328G>T
PubMed Link: 21972111
Variant Present in the following documents:
  • Main text
View BVdb publication page