Article
Identification and characterization of a tissue-specific silencer element in the first intron of the human acid maltase gene.
Human genetics - 1 Aug 2001
Yan B, Raben N, Lu N, Plotz P H
Abstract excerpt
Deficiency of acid maltase (acid alpha-glucosidase), a lysosomal enzyme that degrades glycogen, results in glycogenosis type II, an autosomal recessive disease whose manifestations and severity largely depend on the level of residual enzyme activity. Previous studies have established that there are transcriptional control elements in the first intron; in particular a silencer responsive to Hes-1 and YY1 has been...
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