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

Anna MalekkouIoanna SevastouGavriella MavrikiouTheodoros GeorgiouLluisa VilageliuMarina MoraitouHelen MichelakakisChrystalla ProkopiouAnthi Drousiotou

Published in: Molecular genetics & genomic medicine (2020)

This 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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
single cell
gene expression
replacement therapy
single molecule