Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
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. To da...
Main Authors: | Jayesh Sheth, Riddhi Bhavsar, Mehul Mistri, Dhairya Pancholi, Ashish Bavdekar, Ashwin Dalal, Prajnya Ranganath, Katta M Girisha, Anju Shukla, Shubha Phadke, Ratna Puri, Inusha Panigrahi, Anupriya Kaur, Mamta Muranjan, Manisha Goyal, Radha Ramadevi, Raju Shah, Sheela Nampoothiri, Sumita Danda, Chaitanya Datar, Seema Kapoor, Seema Bhatwadekar, Frenny Sheth |
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Format: | Article |
Language: | English |
Published: |
BMC
2019-02-01
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Series: | BMC Medical Genetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s12881-019-0759-1 |
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