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

• Główni autorzy: Jayesh Sheth (Autor), Dhairya Pancholi (Autor), Mehul Mistri (Autor), Payal Nath (Autor), Chitra Ankleshwaria (Autor), Riddhi Bhavsar (Autor), Ratna Puri (Autor), Shubha Phadke (Autor), Frenny Sheth (Autor)
• Format: Książka
• Wydane: BMC, 2018-10-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...