Cargando…
Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease
OBJECTIVES: Gaucher disease (GD) is the most common autosomal recessive disorder of glycolipid storage. It results from mutations in the glucocerebrosidase (GBA) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD. MATERIALS A...
| Autores principales: | , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Shahid Beheshti University of Medical Sciences
2021
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8272556/ https://www.ncbi.nlm.nih.gov/pubmed/34282371 http://dx.doi.org/10.22037/ijcn.v15i4.23834 |