Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

• Hoofdauteurs: Jayesh Sheth (Auteur), Mehul Mistri (Auteur), Lakshmi Mahadevan (Auteur), Sanjeev Mehta (Auteur), Dhaval Solanki (Auteur), Mahesh Kamate (Auteur), Frenny Sheth (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2018-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract Background Tay-Sachs disease (TSD) is a sphingolipid storage disorder caused by mutations in the HEXA gene. To date, nearly 170 mutations of HEXA have been described, including only one 7.6 kb large deletion. Methods Multiplex Ligation-dependent Probe Amplification (MLPA) study was carried...