Article
The French Canadian Tay-Sachs disease deletion mutation: identification of probable founders.
Human genetics - 1 Apr 1992
De Braekeleer M, Hechtman P, Andermann E, Kaplan F
Abstract excerpt
Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion for this mutation located in the Bas-St.-Laurent and Gaspésie regions of the province of Quebec....
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