Browsing by Author "Kalra, Jaswinder"
Now showing items 1-1 of 1
-
Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management
Panigrahi, Inusha; Kalra, Jaswinder; Goyad, Prasoon; Khetarpal, Preeti; Munshi, Anjana (SciTechnol, 2016)Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase ...