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-Reference-Cited by-同舟云学术

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

Published:2019-04 Issue:5 Volume:7 Page:e622
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Zhang Yan¹^ORCID,Yang Weikang²,Wen Guoming³,Wu Yanxia⁴,Jing Zhiliang⁴,Li Dazhou⁴,Tang Minshan⁴,Liu Guanglong⁴,Wei Xuxuan⁴,Zhong Yan¹,Li Yanhua¹,Deng Yongjian⁴^ORCID

Affiliation:

1. Department of Pathology Shenzhen Longhua District Maternity & Child Healthcare Hospital Shenzhen P.R. China

2. Department of Prevention and health care Shenzhen Longhua District Maternity & Child Healthcare HospitalShenzhen China

3. Department of Outpatient Shenzhen Longhua District Maternity and Child Healthcare Hospital Shenzhen China

4. Department of Pathology Nanfang Hospital and School of Basic Medical Sciences, Southern Medical University Guangzhou P.R. China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.622

Reference22 articles.

1. Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

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

3. Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy

4. A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy

5. Functional correction of dystrophin actin binding domain mutations by genome editing. JCI;Kyrychenko V.;Insight,2017

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