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

ConclusionThis study expands the mutation spectrum of GD and highlights the importance of RNA sequencing for the molecular diagnosis of patients bearing mutations in nonexonic regions.

Source: Molecular Genetics & Genomic Medicine - January 13, 2020 Category: Genetics & Stem Cells Authors: Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou Tags: ORIGINAL ARTICLE Source Type: research