Article
A common beta hexosaminidase gene mutation in adult Sandhoff disease patients.
Human genetics - 1 Oct 1995
Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti P F, Rizzuto N, Salviati A
Abstract excerpt
beta-Hexosaminidase gene mutations were analyzed in two adult-onset Sandhoff disease Italian patients by PCR analysis of a common known mutation (delta 5') and by heteroduplex analysis of genomic and RT-PCR DNA fragments, covering the whole gene. The patients' genotypes were delta 5'/C1214%, and G890A/C1214T, respectively. As mutation C1214T (Pro405Leu) is also present in the other two late-onset cases so far...
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