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...

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Detalles Bibliográficos
Autores principales: MOZAFARI, Hadi, TGHIKHANI, Mohammad, RAHIMI, Zohreh, VAISI RAYGANI, Asad, ANSARI, Shahla, KHATAMI, Shohreh, ALAEI, Mohammad Reza, SAGHIRI, Reza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2021
Materias:
Original Article
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

Internet

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

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