Article
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
Journal of neurogenetics - 1 Jun 2013
Rani Abdul Qawee, Sasongko Teguh Haryo, Sulong Sarina, Bunyan David, Salmi Abdul Razak, Zilfalil Bin Alwi, Matsuo Masafumi, Zabidi-Hussin Z A M H
Abstract excerpt
We undertook the clinical feature examination and dystrophin analysis using multiplex ligation-dependent probe amplification (MLPA) and direct DNA sequencing of selected exons in a cohort of 35 Malaysian Duchenne/Becker muscular dystrophy (DMD/BMD) patients. We found 27 patients with deletions of one or more exons, 2 patients with one exon duplication, 2 patients with nucleotide deletion, and 4 patients with...
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