Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

• Main Authors: Jayesh Sheth (Author), Riddhi Bhavsar (Author), Mehul Mistri (Author), Dhairya Pancholi (Author), Ashish Bavdekar (Author), Ashwin Dalal (Author), Prajnya Ranganath (Author), Katta M Girisha (Author), Anju Shukla (Author), Shubha Phadke (Author), Ratna Puri (Author), Inusha Panigrahi (Author), Anupriya Kaur (Author), Mamta Muranjan (Author), Manisha Goyal (Author), Radha Ramadevi (Author), Raju Shah (Author), Sheela Nampoothiri (Author), Sumita Danda (Author), Chaitanya Datar (Author), Seema Kapoor (Author), Seema Bhatwadekar (Author), Frenny Sheth (Author)
• Format: Book
• Published: BMC, 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect. This leads to the glucocerebrosidase enzyme deficiency and an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes....