Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Abstract Background In individuals with Duchenne muscular dystrophy (DMD), exon skipping treatment to restore a wild-type phenotype or correct the frame shift of the mRNA transcript of the dystrophin (DMD) gene are mutation-specific. To explore the molecular characterization of DMD rearrangements an...

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Bibliographic Details
Main Authors: Nasser A. Elhawary, Essam H. Jiffri, Samira Jambi, Ahmad H. Mufti, Anas Dannoun, Hassan Kordi, Asim Khogeer, Osama H. Jiffri, Abdelrahman N. Elhawary, Mohammed T. Tayeb
Format: Article
Language:English
Published: BMC 2018-04-01
Series:Human Genomics
Subjects:
Duchenne muscular dystrophy
Dystrophin gene
Large rearrangements
Frame shift
MLPA
Saudi community
Online Access:http://link.springer.com/article/10.1186/s40246-018-0152-8

Internet

http://link.springer.com/article/10.1186/s40246-018-0152-8

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