| pubmed-article:1777603 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:1777603 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:1777603 | lifeskim:mentions | umls-concept:C0005283 | lld:lifeskim |
| pubmed-article:1777603 | lifeskim:mentions | umls-concept:C0009221 | lld:lifeskim |
| pubmed-article:1777603 | lifeskim:mentions | umls-concept:C0733755 | lld:lifeskim |
| pubmed-article:1777603 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:1777603 | pubmed:issue | 4 | lld:pubmed |
| pubmed-article:1777603 | pubmed:dateCreated | 1992-3-11 | lld:pubmed |
| pubmed-article:1777603 | pubmed:abstractText | We describe the hematological and clinical data for a young Greek patient with beta-thalassemia intermedia and for several members of her family. The patient had inherited the common IVS-I-1 (G----A) mutation from her mother, while the second beta-globin gene had a C----G mutation at position 6 3' to the terminating codon (term. + 6). Her father and three additional relatives with a heterozygosity for this newly discovered mutation had no hematological abnormalities, normal Hb A2 values, and a nearly normal in vitro chain synthesis ratio. Analyses of nearly 500 additional beta-thalassemia and normal chromosomes failed to detect this mutation which eliminates it as a common polymorphism. Although our findings may indicate a rare polymorphism, the probability that it represents the cause of diminished beta chain synthesis is very high indeed. We suggest that the C----G mutation in this untranslated region of the beta-globin gene causes a slight decrease in the stability of the mRNA which becomes clinically important only in situations when beta chain synthesis in trans is eliminated. | lld:pubmed |
| pubmed-article:1777603 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:grant | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:language | eng | lld:pubmed |
| pubmed-article:1777603 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:1777603 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:1777603 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:1777603 | pubmed:month | Aug | lld:pubmed |
| pubmed-article:1777603 | pubmed:issn | 0925-5710 | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:HuismanT HTH | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:LoukopoulosDD | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:JankovicLL | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:KolliaPP | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:DimovskiA JAJ | lld:pubmed |
| pubmed-article:1777603 | pubmed:author | pubmed-author:KarageorgaMM | lld:pubmed |
| pubmed-article:1777603 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:1777603 | pubmed:volume | 54 | lld:pubmed |
| pubmed-article:1777603 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:1777603 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:1777603 | pubmed:pagination | 289-93 | lld:pubmed |
| pubmed-article:1777603 | pubmed:dateRevised | 2007-11-14 | lld:pubmed |
| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
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| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
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| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
| pubmed-article:1777603 | pubmed:meshHeading | pubmed-meshheading:1777603-... | lld:pubmed |
| pubmed-article:1777603 | pubmed:year | 1991 | lld:pubmed |
| pubmed-article:1777603 | pubmed:articleTitle | A C----G mutation at nt position 6 3' to the terminating codon may be the cause of a silent beta-thalassemia. | lld:pubmed |
| pubmed-article:1777603 | pubmed:affiliation | Department of Cell and Molecular Biology, Medical College of Georgia, Augusta 30912-2100. | lld:pubmed |
| pubmed-article:1777603 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:1777603 | pubmed:publicationType | Research Support, U.S. Gov't, P.H.S. | lld:pubmed |
| pubmed-article:1777603 | pubmed:publicationType | Case Reports | lld:pubmed |
| pubmed-article:1777603 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |
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