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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies

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author: Patrizia Sabatelli  Matteo Bovolenta  Luciano Merlini  Enrico Bertini 

Publication date March 19, 2010
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