The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene

Gaucher disease (GD, ORPHA355) is a rare autosomal recessive genetic disease caused by mutations in GBA1, which encodes the lysosomal enzyme glucocerebrosidase (GCase). Here, we report a patient with GD who carried the heterozygous c.1240G > C (p.Val414Leu) mutation and the heterozygous patho...

Full description

Bibliographic Details
Main Authors: Qi Liu, Zongrui Shen, Hong Pan, Shunfei Ma, Fu Xiong, Fei He
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Pediatrics
Subjects:
Gaucher disease
GBA1
c.1240G > C
c.1342G > C
cell experiment
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1092645/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2023.1092645/full

Similar Items