Title : A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter.

Pub. Date : 2006 May 26

PMID : 16728641






1 Functional Relationships(s)
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1 After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, we identified a gain-of-function regulatory single-nucleotide polymorphism (rSNP) in a nongenic region between the alpha-globin genes and their upstream regulatory elements. Oligonucleotides hemoglobin subunit alpha 2 Homo sapiens