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

• Auteurs principaux: Jayesh Sheth (Auteur), Dhairya Pancholi (Auteur), Mehul Mistri (Auteur), Payal Nath (Auteur), Chitra Ankleshwaria (Auteur), Riddhi Bhavsar (Auteur), Ratna Puri (Auteur), Shubha Phadke (Auteur), Frenny Sheth (Auteur)
• Format: Livre
• Publié: BMC, 2018-10-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...