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

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

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...

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Main Authors: Jayesh Sheth (Author), Mehul Mistri (Author), Lakshmi Mahadevan (Author), Sanjeev Mehta (Author), Dhaval Solanki (Author), Mahesh Kamate (Author), Frenny Sheth (Author)
Format: Book
Published: BMC, 2018-07-01T00:00:00Z.
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