A case report of Duchenne muscular dystrophy; identification of a novel mutation in dystrophin gene using next generation sequencing
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics
Reference11 articles.
1. Mutational analysis in dystrophin gene with dystrophinopathy: a novel familial case report in Tamil Nadu;Balachandar;Int. J. Hum. Genet.,2016
2. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction;Beggs;Hum. Genet.,1990
3. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector;Bowles;Mol. Ther.,2012
4. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification;Chamberlain;Nucleic Acids Res.,1988
5. Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation;Ebrahimzadeh-Vesal;Gene,2018
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection;Meta Gene;2020-06
2. MLPA Analyses Reveal a Spectrum of Dystrophin Gene Deletions/Duplications in Pakistani Patients Suspected of Having Duchenne/Becker Muscular Dystrophy: A Retrospective Study;Genetic Testing and Molecular Biomarkers;2019-07
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