Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5513975 | Molecular Genetics and Metabolism | 2016 | 9 Pages |
Abstract
These results demonstrate the diagnostic usefulness of MLPA in the detection of GBA deletions and recombinations. In addition, MLPA findings have also served as a basis for developing molecular approaches to precisely pinpoint the breakpoints and characterize the underlying mechanism of copy number variations.
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Biochemistry
Authors
Giulia Amico, Serena Grossi, Raymon Vijzelaar, Federica Lanza, Raffaella Mazzotti, Fabio Corsolini, Mirjam Ketema, Mirella Filocamo,