DMD c.10003G>C ;(p.D3335H)

Variant ID: X-31198570-C-G

NM_004006.2(DMD):c.10003G>C;(p.D3335H)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The lncRNA H19 alleviates muscular dystrophy by stabilizing dystrophin.

Nature Cell Biology
Zhang, Yaohua Y; Li, Yajuan Y; Hu, Qingsong Q; Xi, Yutao Y; Xing, Zhen Z; Zhang, Zhao Z; Huang, Lisa L; Wu, Jianbo J; Liang, Ke K; Nguyen, Tina K TK; Egranov, Sergey D SD; Sun, Chengcao C; Zhao, Zilong Z; Hawke, David H DH; Li, Jin J; Sun, Deqiang D; Kim, Jean J JJ; Zhang, Ping P; Cheng, Jie J; Farida, Abid A; Hung, Mien-Chie MC; Han, Leng L; Darabi, Radbod R; Lin, Chunru C; Yang, Liuqing L
Publication Date: 2020-11

Variant appearance in text: DMD: D3335H
PubMed Link: 33106653
Variant Present in the following documents:
  • NIHMS1630179-supplement-1630179_SourceDataFig2.xlsx, sheet 2
View BVdb publication page



The ZZ domain of dystrophin in DMD: making sense of missense mutations.

Human Mutation
Vulin, Adeline A; Wein, Nicolas N; Strandjord, Dana M DM; Johnson, Eric K EK; Findlay, Andrew R AR; Maiti, Baijayanta B; Howard, Michael T MT; Kaminoh, Yuuki J YJ; Taylor, Laura E LE; Simmons, Tabatha R TR; Ray, Will C WC; Montanaro, Federica F; Ervasti, Jim M JM; Flanigan, Kevin M KM
Publication Date: 2014-02

Variant appearance in text: DMD: 10003G>C; Asp3335His
PubMed Link: 24302611
Variant Present in the following documents:
  • Main text
View BVdb publication page



Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.

Molecular Therapy : The Journal Of The American Society Of Gene Therapy
Cirak, Sebahattin S; Feng, Lucy L; Anthony, Karen K; Arechavala-Gomeza, Virginia V; Torelli, Silvia S; Sewry, Caroline C; Morgan, Jennifer E JE; Muntoni, Francesco F
Publication Date: 2012-02

Variant appearance in text: DMD: D3335H
PubMed Link: 22086232
Variant Present in the following documents:
  • Main text
View BVdb publication page



ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site.

The Biochemical Journal
Hnia, Karim K; Zouiten, Dora D; Cantel, Sonia S; Chazalette, Delphine D; Hugon, GĂ©rald G; Fehrentz, Jean-Alain JA; Masmoudi, Ahmed A; Diment, Ann A; Bramham, Janice J; Mornet, Dominique D; Winder, Steve J SJ
Publication Date: 2007-02-01

Variant appearance in text: DMD: D3335H
PubMed Link: 17009962
Variant Present in the following documents:
  • Main text
View BVdb publication page