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- W2010200061 abstract "The molecular diagnosis of Duchenne and Becker muscular dystrophies is particularly difficult for the size of the dystrophin gene (2.4Mb with 79 exons and 8 promoters) and because the spectrum of disease-causing mutations is extremely wide and heterogeneous, with a high rate of new mutations. In the last few years different laborious DNA scanning techniques have been developed for the identification of these mutations since they have a pivotal importance in definition of the carrier status in females and for prenatal diagnosis." @default.
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- W2010200061 date "2008-10-01" @default.
- W2010200061 modified "2023-10-13" @default.
- W2010200061 title "G.P.7.01 Combinatorial DHPLC analyses to identify point mutations in the dystrophin gene in 144 DMD/BMD patients" @default.
- W2010200061 doi "https://doi.org/10.1016/j.nmd.2008.06.181" @default.
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