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- W2004549062 abstract "DMD and BMD are X-linked myopathy diseases in most cases caused by intragenic deletions, but duplications also appear in a significant number of cases. We present a complex duplication pattern detected by MLPA, a recently formulated method applied here to amplify the 79 exons of the DMD gene. We found a double-duplication in two DMD-affected brothers and in their carrier mother, which consist of two non-contiguous duplications encompassing exons 2 to 7 and exons 50 to 55. Different models are presented to explain formation of this genetic variant." @default.
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- W2004549062 date "2008-01-01" @default.
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- W2004549062 title "Two Non-Contiguous Duplications in the<i>DMD</i>Gene in a Spanish Family" @default.
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- W2004549062 doi "https://doi.org/10.1080/01677060701686184" @default.
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