DMD c.1375G>T ;(p.E459*)

Variant ID: X-32632527-C-A

NM_004006.2(DMD):c.1375G>T;(p.E459*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Bmc Medical Genetics
Kong, Xiangdong X; Zhong, Xingjian X; Liu, Lina L; Cui, Siying S; Yang, Yuxia Y; Kong, Lingrong L
Publication Date: 2019-08-14

Variant appearance in text: DMD: 1375G>T; Glu459*
PubMed Link: 31412794
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_873.pdf
View BVdb publication page



Prevalence and Characteristics of Chinese Patients With Duchenne and Becker Muscular Dystrophy: A Territory Wide Collaborative Study in Hong Kong.

Child Neurology Open
Chan, Sophelia H S SHS; Lo, Ivan F M IFM; Cherk, Sharon W W SWW; Cheng, Wai Wai WW; Fung, Eva L W ELW; Yeung, Wai Lan WL; Ngan, Mary M; Lee, Wing Cheong WC; Kwong, Ling L; Wong, Suet Na SN; Ma, Che Kwan CK; Tai, Shuk Mui SM; Ng, Grace S F GSF; Wu, Shun Ping SP; Wong, Virginia C N VCN
Publication Date: 2015

Variant appearance in text: DMD: 1375G>T; Glu459*
PubMed Link: 28503591
Variant Present in the following documents:
  • Main text
  • 10.1177_2329048X15585345.pdf
View BVdb publication page