| pubmed-article:3382401 | rdf:type | pubmed:Citation | lld:pubmed |
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| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C1705846 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0002602 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0005283 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0678226 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0919524 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0179400 | lld:lifeskim |
| pubmed-article:3382401 | lifeskim:mentions | umls-concept:C0454691 | lld:lifeskim |
| pubmed-article:3382401 | pubmed:issue | 2 | lld:pubmed |
| pubmed-article:3382401 | pubmed:dateCreated | 1988-7-22 | lld:pubmed |
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| pubmed-article:3382401 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:3382401 | pubmed:databankReference | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:3382401 | pubmed:abstractText | Sequence analyses of amplified DNA from a Yugoslavian patient with Hb Lepore-beta-thalassemia and from his father with a simple beta-thalassemia trait have revealed a T----A mutation within the ATA box at a position 30 base pairs upstream from the Cap site. The nucleotide substitution was confirmed through dot-blot analysis of amplified DNA with specific 32P-labeled synthetic oligonucleotide probes. The patient had a clinically severe condition; his Hb Lepore-beta-thalassemia was of the beta + type, as about 8-10% of the non-alpha chain was normal beta A. The same T----A mutation at nucleotide -30 was present on both chromosomes of a young Turkish patient who suffered from a thalassemia intermedia with a low level of Hb F (13.1%) and a relatively high beta A chain synthesis. These data are similar to those obtained for other types of beta +-thalassemia caused by comparable substitutions at positions 31, 29, and 28 base pairs upstream from the Cap site of the beta-globin gene. | lld:pubmed |
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| pubmed-article:3382401 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3382401 | pubmed:language | eng | lld:pubmed |
| pubmed-article:3382401 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3382401 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:3382401 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:3382401 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:3382401 | pubmed:month | Jun | lld:pubmed |
| pubmed-article:3382401 | pubmed:issn | 0006-291X | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:HuismanT HTH | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:EfremovG DGD | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:AltayCC | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:StomingT ATA | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:GurgeyAA | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:FeiY JYJ | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:EfremovD GDG | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:Gonzalez-Redo... | lld:pubmed |
| pubmed-article:3382401 | pubmed:author | pubmed-author:BattachariaRR | lld:pubmed |
| pubmed-article:3382401 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:3382401 | pubmed:day | 16 | lld:pubmed |
| pubmed-article:3382401 | pubmed:volume | 153 | lld:pubmed |
| pubmed-article:3382401 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:3382401 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:3382401 | pubmed:pagination | 741-7 | lld:pubmed |
| pubmed-article:3382401 | pubmed:dateRevised | 2008-11-21 | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:meshHeading | pubmed-meshheading:3382401-... | lld:pubmed |
| pubmed-article:3382401 | pubmed:year | 1988 | lld:pubmed |
| pubmed-article:3382401 | pubmed:articleTitle | Beta-thalassemia due to a T----A mutation within the ATA box. | lld:pubmed |
| pubmed-article:3382401 | pubmed:affiliation | Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100. | lld:pubmed |
| pubmed-article:3382401 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:3382401 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:3382401 | pubmed:publicationType | Research Support, U.S. Gov't, Non-P.H.S. | lld:pubmed |
| pubmed-article:3382401 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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| http://linkedlifedata.com/r... | pubmed:referesTo | pubmed-article:3382401 | lld:pubmed |
