Publications:

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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: 4414C>T

PubMed Link: 34140489

Variant Present in the following documents:

• 41467_2021_23996_MOESM1_ESM.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: 4414C>T; Gln1472*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

View BVdb publication page

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Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Frontiers In Genetics

Wang, Liang L; Xu, Min M; Li, Huan H; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C; Zhu, Yuling Y

Publication Date: 2019

Variant appearance in text: DMD: 4414C>T; Gln1472Ter

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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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: 4414C>T; Gln1472*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

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Cardiac Dysfunction in Duchenne Muscular Dystrophy Is Less Frequent in Patients With Mutations in the Dystrophin Dp116 Coding Region Than in Other Regions.

Circulation. Genomic And Precision Medicine

Yamamoto, Tetsushi T; Awano, Hiroyuki H; Zhang, Zhujun Z; Sakuma, Mio M; Kitaaki, Shoko S; Matsumoto, Masaaki M; Nagai, Masashi M; Sato, Itsuko I; Imanishi, Takamitsu T; Hayashi, Nobuhide N; Matsuo, Masafumi M; Iijima, Kazumoto K; Saegusa, Jun J

Publication Date: 2018-01

Variant appearance in text: DMD: 4414C>T

PubMed Link: 29874176

Variant Present in the following documents:

• hcg-11-e001782-s001.pdf

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Feasibility and tolerability of whole-body, low-intensity vibration and its effects on muscle function and bone in patients with dystrophinopathies: a pilot study.

Muscle & Nerve

Petryk, Anna A; Polgreen, Lynda E LE; Grames, Molly M; Lowe, Dawn A DA; Hodges, James S JS; Karachunski, Peter P

Publication Date: 2017-06

Variant appearance in text: DMD: Q1472X

PubMed Link: 27718512

Variant Present in the following documents:

• Main text
• MUS-55-875.pdf

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