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: 4108C>T; Q1370*

PubMed Link: 37254189

Variant Present in the following documents:

• Main text
• 12920_2023_Article_1556.pdf

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Long term treatment with ataluren-the Swedish experience.

Bmc Musculoskeletal Disorders

Michael, Eva E; Sofou, Kalliopi K; Wahlgren, Lisa L; Kroksmark, Anna-Karin AK; Tulinius, Már M

Publication Date: 2021-09-30

Variant appearance in text: DMD: Gln1370*

PubMed Link: 34592975

Variant Present in the following documents:

• Main text
• 12891_2021_Article_4700.pdf

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Theragnosis for Duchenne Muscular Dystrophy.

Frontiers In Pharmacology

Luce, Leonela L; Carcione, Micaela M; Mazzanti, Chiara C; Buonfiglio, Paula I PI; Dalamón, Viviana V; Mesa, Lilia L; Dubrovsky, Alberto A; Corderí, José J; Giliberto, Florencia F

Publication Date: 2021

Variant appearance in text: DMD: 4108C>T; Gln1370*

PubMed Link: 34149409

Variant Present in the following documents:

• Main text
• fphar-12-648390.pdf

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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: 4108C>T; Gln1370*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

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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: 4108C>T; Gln1370*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

View BVdb publication page