Publications:

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: 11G>A; Trp4*

PubMed Link: 34078427

Variant Present in the following documents:

• 13023_2021_1853_MOESM1_ESM.pdf

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 11G>A

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.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: 11G>A; Trp4*

PubMed Link: 29973226

Variant Present in the following documents:

• 13023_2018_853_MOESM1_ESM.pdf

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DMD exon 1 truncating point mutations: amelioration of phenotype by alternative translation initiation in exon 6.

Human Mutation

Gurvich, Olga L OL; Maiti, Baijayanta B; Weiss, Robert B RB; Aggarwal, Gaurav G; Howard, Michael T MT; Flanigan, Kevin M KM

Publication Date: 2009-04

Variant appearance in text: DMD: 11G>A; Trp4X

PubMed Link: 19206170

Variant Present in the following documents:

• Main text

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