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 pathogeni...

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Detalles Bibliográficos
Autores principales: Liu, Qi, Shen, Zongrui, Pan, Hong, Ma, Shunfei, Xiong, Fu, He, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9909548/
https://www.ncbi.nlm.nih.gov/pubmed/36776904
http://dx.doi.org/10.3389/fped.2023.1092645

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