Article
The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.
Human genetics - 1 Dec 1992
Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F
Abstract excerpt
Mutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G-->A transition at the +1 position of intron 7, abolishes the donor splice site. Cultured human fibroblasts from a...
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