Publications:

NGS-based targeted sequencing identified six novel variants in patients with Duchenne/Becker muscular dystrophy from southwestern China.

Bmc Medical Genomics

Tang, Feng F; Xiao, Yuanyuan Y; Zhou, Cong C; Zhang, Haixia H; Wang, Jing J; Zeng, Yang Y

Publication Date: 2023-05-30

Variant appearance in text: DMD: 9148C>T; Q3050*

PubMed Link: 37254189

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1556.pdf

View BVdb publication page

Efficient precise in vivo base editing in adult dystrophic mice.

Nature Communications

Xu, Li L; Zhang, Chen C; Li, Haiwen H; Wang, Peipei P; Gao, Yandi Y; Mokadam, Nahush A NA; Ma, Jianjie J; Arnold, W David WD; Han, Renzhi R

Publication Date: 2021-06-17

Variant appearance in text: DMD: 9148C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.pdf

View BVdb publication page

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.

Plos One

Juan-Mateu, Jonàs J; González-Quereda, Lidia L; Rodríguez, Maria José MJ; Verdura, Edgard E; Lázaro, Kira K; Jou, Cristina C; Nascimento, Andrés A; Jiménez-Mallebrera, Cecilia C; Colomer, Jaume J; Monges, Soledad S; Lubieniecki, Fabiana F; Foncuberta, Maria Eugenia ME; Pascual-Pascual, Samuel Ignacio SI; Molano, Jesús J; Baiget, Montserrat M; Gallano, Pia P

Publication Date: 2013

Variant appearance in text: DMD: 9148C>T; Gln3050X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

View BVdb publication page