Article
Small mutations detected by multiplex ligation-dependent probe amplification of the dystrophin gene.
Genetic testing and molecular biomarkers - 1 Jun 2009
Okizuka Yo, Takeshima Yasuhiro, Awano Hiroyuki, Zhang Zhujun, Yagi Mariko, Matsuo Masafumi
Abstract excerpt
Currently, multiplex ligation-dependent probe amplification (MLPA) has been recognized as the most powerful and convenient method to identify exon deletions or duplications in the dystrophin gene, the mutation of which causes Duchenne and Becker muscular dystrophies (DMD/BMD). The mutation diagnosis is easily done by assessing the amounts amplified by MLPA (loss, single, or double). However, an ambiguous amount...
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