Publications:

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: 3982C>T; Gln1328Ter

PubMed Link: 30833962

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Clinical and genetic characteristics of female dystrophinopathy carriers.

Molecular Medicine Reports

Zhong, Jingzi J; Xie, Yanshu Y; Bhandari, Vidata V; Chen, Gang G; Dang, Yiwu Y; Liao, Haixia H; Zhang, Jiapeng J; Lan, Dan D

Publication Date: 2019-04

Variant appearance in text: DMD: 3982C>T; Gln1328Ter

PubMed Link: 30816495

Variant Present in the following documents:

• Main text
• mmr-19-04-3035.pdf

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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: 3982C>T; Gln1328X

PubMed Link: 23536893

Variant Present in the following documents:

• Main text
• pone.0059916.pdf

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