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- W71778210 abstract "Abstract To date, all of the chromosomal deletions that cause -thalassemia remove the structural genes and/or their regulatory element (HS –40). A unique deletion occurs in a single family that juxtaposes a region that normally lies approximately 18-kilobase downstream of the human cluster, next to a structurally normal -globin gene, and silences its expression. During development, the CpG island associated with the -globin promoter in the rearranged chromosome becomes densely methylated and insensitive to endonucleases, demonstrating that the normal chromatin structure around the -globin gene is perturbed by this mutation and that the gene is inactivated by a negative chromosomal position effect. These findings highlight the importance of the chromosomal environment in regulating globin gene expression." @default.
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- W71778210 date "2000-08-01" @default.
- W71778210 modified "2023-10-16" @default.
- W71778210 title "α-Thalassemia resulting from a negative chromosomal position effect" @default.
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- W71778210 doi "https://doi.org/10.1182/blood.v96.3.800" @default.
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