|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
1991-10-4
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|
pubmed:abstractText |
We describe an alpha-thalassemia determinant in which alpha-globin expression is silenced by a deletion located 27 kb 5' to the transcription start site of the alpha 2-globin gene. This alpha-thalassemic determinant, (alpha alpha)MM, is a member of a newly described group of thalassemic mutations resulting from deletion of locus-controlling sequences critical to globin gene expression.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Sep
|
|
pubmed:issn |
0006-4971
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:day |
15
|
|
pubmed:volume |
78
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
1589-95
|
|
pubmed:dateRevised |
2008-11-21
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|
pubmed:meshHeading |
pubmed-meshheading:1715793-Amino Acid Sequence,
pubmed-meshheading:1715793-Blotting, Southern,
pubmed-meshheading:1715793-Child,
pubmed-meshheading:1715793-Chromosome Deletion,
pubmed-meshheading:1715793-Chromosome Mapping,
pubmed-meshheading:1715793-Female,
pubmed-meshheading:1715793-Genes,
pubmed-meshheading:1715793-Genotype,
pubmed-meshheading:1715793-Globins,
pubmed-meshheading:1715793-Humans,
pubmed-meshheading:1715793-Molecular Sequence Data,
pubmed-meshheading:1715793-Operator Regions, Genetic,
pubmed-meshheading:1715793-Polymerase Chain Reaction,
pubmed-meshheading:1715793-RNA,
pubmed-meshheading:1715793-Thalassemia
|
|
pubmed:year |
1991
|
|
pubmed:articleTitle |
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes.
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|
pubmed:affiliation |
Howard Hughes Medical Institute, Department of Human Genetics and Medicine, University of Pennsylvania, Philadelphia 19104.
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|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|
