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rdf:type |
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|
lifeskim:mentions |
umls-concept:C0000697,
umls-concept:C0017337,
umls-concept:C0019025,
umls-concept:C0026882,
umls-concept:C0178499,
umls-concept:C0205117,
umls-concept:C0205145,
umls-concept:C0205171,
umls-concept:C0376315,
umls-concept:C0596227,
umls-concept:C1274040
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pubmed:issue |
6
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|
pubmed:dateCreated |
1987-1-7
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|
pubmed:abstractText |
The G gamma and A gamma genes of an individual homozygous for the British form of A gamma nondeletion hereditary persistence of fetal hemoglobin have been cloned and partially sequenced. The G gamma gene was normal, but the A gamma gene was found to have a single base change (T----C) at -198 bp relative to the cap site. Supercoiled plasmids containing normal gamma-genes or the mutant A gamma-gene displayed an S1-hypersensitive site immediately 5' to the base change.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
|
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pubmed:month |
Dec
|
|
pubmed:issn |
0006-4971
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|
pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
68
|
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
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pubmed:pagination |
1389-93
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:2430647-Base Sequence,
pubmed-meshheading:2430647-Chromosome Mapping,
pubmed-meshheading:2430647-DNA Restriction Enzymes,
pubmed-meshheading:2430647-Endonucleases,
pubmed-meshheading:2430647-Fetal Hemoglobin,
pubmed-meshheading:2430647-Gene Expression Regulation,
pubmed-meshheading:2430647-Genes, Regulator,
pubmed-meshheading:2430647-Globins,
pubmed-meshheading:2430647-Hematologic Diseases,
pubmed-meshheading:2430647-Humans,
pubmed-meshheading:2430647-Mutation,
pubmed-meshheading:2430647-Single-Strand Specific DNA and RNA Endonucleases
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|
pubmed:year |
1986
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|
pubmed:articleTitle |
The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene.
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pubmed:publicationType |
Journal Article
|
