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

• Үндсэн зохиолчид: Jayesh Sheth (Зохиогч), Riddhi Bhavsar (Зохиогч), Mehul Mistri (Зохиогч), Dhairya Pancholi (Зохиогч), Ashish Bavdekar (Зохиогч), Ashwin Dalal (Зохиогч), Prajnya Ranganath (Зохиогч), Katta M Girisha (Зохиогч), Anju Shukla (Зохиогч), Shubha Phadke (Зохиогч), Ratna Puri (Зохиогч), Inusha Panigrahi (Зохиогч), Anupriya Kaur (Зохиогч), Mamta Muranjan (Зохиогч), Manisha Goyal (Зохиогч), Radha Ramadevi (Зохиогч), Raju Shah (Зохиогч), Sheela Nampoothiri (Зохиогч), Sumita Danda (Зохиогч), Chaitanya Datar (Зохиогч), Seema Kapoor (Зохиогч), Seema Bhatwadekar (Зохиогч), Frenny Sheth (Зохиогч)
• Формат: Ном
• Хэвлэсэн: BMC, 2019-02-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: 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....