Article
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Blood cells, molecules & diseases - 1 Feb 2018
Basgalupp Suelen P, Siebert Marina, Vairo Filippo Pinto E, Chami Anisse Marques, Pinto Louise Lapagesse de Camargo, Carvalho Gerson da S, Schwartz Ida Vanessa D
Abstract excerpt
Gaucher disease (GD) is caused by the deficient activity of β-glucocerebrosidase due to pathogenic mutations in the GBA1. This gene has a pseudogene (GBAP) with 96% of sequence homology. Recombination (Rec) events in the GBA1 seem to be facilitated by an increased degree of homology and proximity to the GBAP. The objectives of this study were to validate the P338-X1 GBA kit (MRC-Holland) for Multiplex...
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