Article
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.
Molecular genetics and metabolism - 1 Dec 2016
Amico Giulia, Grossi Serena, Vijzelaar Raymon, Lanza Federica, Mazzotti Raffaella, Corsolini Fabio, Ketema Mirjam, Filocamo Mirella
Abstract excerpt
The chromosomal region, in which the GBA gene is located, is structurally subject to misalignments, reciprocal and nonreciprocal homologous recombination events, leading to structural defects such as deletions, duplications and gene-pseudogene complex rearrangements causing Gaucher Disease (GD). Interestingly deletions and duplications, belonging to the heterogeneous group of structural defects collectively...
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