Article
Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.
Human genomics - 10 Apr 2018
Elhawary Nasser A, Jiffri Essam H, Jambi Samira, Mufti Ahmad H, Dannoun Anas, Kordi Hassan, Khogeer Asim, Jiffri Osama H, Elhawary Abdelrahman N, Tayeb Mohammed T
Abstract excerpt
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 and predict the reading frame, we simultaneously screened all 79 DMD gene exons of 45 unrelated male DMD patients using a...
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