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  • Title: C to T and/or G to A transitions are responsible for loss of a MspI restriction site at the 5'-end of the human apolipoprotein AI gene.
    Author: Wang XL, Badenhop R, Humphrey KE, Wilcken DE.
    Journal: Hum Genet; 1995 Apr; 95(4):473-4. PubMed ID: 7535747.
    Abstract:
    We detected the loss of a MspI restriction site by a C to T transition at +83 bp and a G to A transition at +84 bp of the 5'-end non-coding region of the human apolipoprotein AI gene. This base change occurred at the "hot spot" (CCGG) for methylation, which may be important in the regulation of gene expression. The population frequency for the loss of the MspI site is 6.1%.
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