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Journal article

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

Abstract:

We describe a pathogenetic mechanism underlying a variant form of the inherited blood disorder alpha thalassemia. Association studies of affected individuals from Melanesia localized the disease trait to the telomeric region of human chromosome 16, which includes the alpha-globin gene cluster, but no molecular defects were detected by conventional approaches. After resequencing and using a combination of chromatin immunoprecipitation and expression analysis on a tiled oligonucleotide array, w...

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Publication status:
Published

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Publisher copy:
10.1126/science.1126431

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
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Journal:
Science (New York, N.Y.)
Volume:
312
Issue:
5777
Pages:
1215-1217
Publication date:
2006-05-01
DOI:
EISSN:
1095-9203
ISSN:
0036-8075
Source identifiers:
124747

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