Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India
2018
Background
Tay-Sachs disease(TSD) is a
sphingolipidstorage disorder caused by mutations in the
HEXAgene. To date, nearly 170 mutations of
HEXAhave been described, including only one 7.6 kb large deletion.
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