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

BMC medical genetics, Vol. 19, Issue 1, Pages 109, 2018

PMID: 29973161

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.

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