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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
1
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pubmed:dateCreated |
1996-12-12
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pubmed:abstractText |
Nd-HPFH are haematological conditions which are natural models to aid understanding of the haemoglobin (Hb) switch. In this paper we describe a new non-deletional hereditary persistence of fetal haemoglobin (nd-HPFH) associated with the highest Hb F level observed to date (up to 49% without haemopoietic stress). Sequence of the G gamma promoter revealed a cytidine insertion within a stretch of four cytidines, located between -200 and -203 bp with respect to the cap site. This insertion is situated within a polypyrimidine-polypurine region which can adopt a triple helix structure, and is therefore of particular interest with respect to the Hb switch mechanism.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0007-1048
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
67-72
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:8857940-Consanguinity,
pubmed-meshheading:8857940-DNA Transposable Elements,
pubmed-meshheading:8857940-Female,
pubmed-meshheading:8857940-Fetal Hemoglobin,
pubmed-meshheading:8857940-Hemoglobinopathies,
pubmed-meshheading:8857940-Heterozygote,
pubmed-meshheading:8857940-Homozygote,
pubmed-meshheading:8857940-Humans,
pubmed-meshheading:8857940-Male,
pubmed-meshheading:8857940-Mutation,
pubmed-meshheading:8857940-Pedigree,
pubmed-meshheading:8857940-Promoter Regions, Genetic,
pubmed-meshheading:8857940-Sequence Analysis, DNA
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pubmed:year |
1996
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pubmed:articleTitle |
A new type of hereditary persistence of fetal haemoglobin (HPFH): HPFH Tunisia beta + (+C-200)G gamma.
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pubmed:affiliation |
INSERM U.91, Hôpital Henri Mondor, Créteil, France.
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pubmed:publicationType |
Journal Article
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