Article
Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
Neuromuscular disorders : NMD - 1 Feb 2009
Pikó Henriett, Vancsó Viktor, Nagy Bálint, Bán Zoltán, Herczegfalvi Agnes, Karcagi Veronika
Abstract excerpt
A comprehensive study of the Hungarian Duchenne/Becker muscular dystrophy (DMD/BMD) families is presented. Deletions in the hot spots regions were identified by multiplex PCR, whereas rare mutations were detected by Southern blot and multiplex ligation-dependent probe amplification (MLPA) techniq...
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