Identification of an altered splice site in Ashkenazi Tay-Sachs disease


Tay-Sachs disease is an autosomal recessive genetic disorder resulting from mutation of the HEXA gene encoding the α-subunit of the lysosomal enzyme, β-N-acerylhexosaminidase A (ref. 1). A relatively high frequency of carriers (1/27) of a lethal, infantile form of the disease is found in the Ashkenazi Jewish population, but it is not yet evident whether… (More)
DOI: 10.1038/333085a0


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