Literature DB >> 29346715

Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation.

Matthew R Ginsberg1, Andrew J McCarty2, David Lacomis3,4, Hoda Z Abdel-Hamid1.   

Abstract

Entities:  

Keywords:  DMD; Duchenne muscular dystrophy; intronic; mutation; splice-site

Mesh：

Substances：

Year:  2018        PMID： 29346715     DOI： 10.1002/mus.26073

Source DB:  PubMed          Journal:  Muscle Nerve        ISSN： 0148-639X            Impact factor:   3.217


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  3 in total

1.  Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.

Authors:  Yan Zhang; Weikang Yang; Guoming Wen; Yanxia Wu; Zhiliang Jing; Dazhou Li; Minshan Tang; Guanglong Liu; Xuxuan Wei; Yan Zhong; Yanhua Li; Yongjian Deng
Journal:  Mol Genet Genomic Med       Date:  2019-04-01       Impact factor: 2.183

Review 2.  Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update.

Authors:  Chengmei Sun; Luoan Shen; Zheng Zhang; Xin Xie
Journal:  Genes (Basel)       Date:  2020-07-23       Impact factor: 4.096

3.  Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.

Authors:  Ying Xu; Tingting Song; Yu Li; Fenfen Guo; Xin Jin; Lu Cheng; Jiao Zheng; Chunyan Li; Yingqi Zhang; Biliang Chen; Jianfang Zhang
Journal:  J Clin Lab Anal       Date:  2019-12-03       Impact factor: 2.352
  3 in total

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