Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

• Автори: Jayesh Sheth (Автор), Dhairya Pancholi (Автор), Mehul Mistri (Автор), Payal Nath (Автор), Chitra Ankleshwaria (Автор), Riddhi Bhavsar (Автор), Ratna Puri (Автор), Shubha Phadke (Автор), Frenny Sheth (Автор)
• Формат: Книга
• Опубліковано: BMC, 2018-10-01T00:00:00Z.
• Предмети: article
• Онлайн доступ: Connect to this object online.

Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. A beta-Glucosidase (GBA) gene defect results in glucocerebrosidase enzyme deficiency. Though the disease is main...