Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

Charlotte A. Brown, Juergen Scharner, Kevin Felice, Matthew N. Meriggioli, Mark Tarnopolsky, Matthew Bower, Peter S. Zammit, Jerry R. Mendell, Juliet A. Ellis

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27 Citations (Scopus)

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Biochemistry, Genetics and Molecular Biology

Neuroscience