MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Giulia Amico,Serena Grossi,Raymon Vijzelaar,Federica Lanza,Raffaella Mazzotti,Fabio Corsolini, Mirjam Ketema,Mirella Filocamo

Molecular Genetics and Metabolism（2016）

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摘要

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).

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关键词

Gaucher Disease,Multiplex Ligation-dependent Probe Amplification (MLPA),Copy number variations,Gene-pseudogene complex rearrangements,Deletions,GBA gene

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