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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Autors principals:	Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Format:	Artigo
Idioma:	Inglês
Publicat:	Wiley 2020-03-01
Col·lecció:	Molecular Genetics & Genomic Medicine
Matèries:	Cypriot deep intronic mutation Gaucher disease GBA glucocerebrosidase
Accés en línia:	https://doi.org/10.1002/mgg3.1090
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