A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within or close to conserved consensus dono...

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Bibliographic Details
Published in:Molecular Genetics & Genomic Medicine
Main Authors: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Format: Article
Language:English
Published: Wiley 2020-03-01
Subjects:
Cypriot
deep intronic mutation
Gaucher disease
GBA
glucocerebrosidase
Online Access:https://doi.org/10.1002/mgg3.1090

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