pubmed-article:1873227 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0015576 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0337801 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C1704675 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0314603 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C2603343 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C1705241 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0439097 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0679622 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0205314 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C1547348 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C0062368 | lld:lifeskim |
pubmed-article:1873227 | lifeskim:mentions | umls-concept:C1504308 | lld:lifeskim |
pubmed-article:1873227 | pubmed:issue | 3 | lld:pubmed |
pubmed-article:1873227 | pubmed:dateCreated | 1991-9-24 | lld:pubmed |
pubmed-article:1873227 | pubmed:abstractText | We have defined the molecular basis of normal HbA2 beta-thalassaemia associated with Hb Knossos. DNA sequence analysis of the delta globin gene in cis with beta Knossos showed deletion of a single A in codon 59 leading to a premature termination at codon 60. This delta 0/beta Knossos allele has been observed in three unrelated Egyptian families and associated with a single beta haplotype (+----++). One individual who was homozygous for the delta 0/beta Knossos allele as well as heterozygous for a non-deletional alpha thalassaemia, was completely clinically asymptomatic, while others have coinherited the delta 0/beta Knossos allele with different beta and alpha thalassaemia determinants. A study of the different genetic interactions giving rise to a spectrum of clinical phenotypes is reported. | lld:pubmed |
pubmed-article:1873227 | pubmed:language | eng | lld:pubmed |
pubmed-article:1873227 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1873227 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:1873227 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1873227 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1873227 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1873227 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:1873227 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:1873227 | pubmed:month | Jul | lld:pubmed |
pubmed-article:1873227 | pubmed:issn | 0007-1048 | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:HoffbrandA... | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:JacksonBB | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:OldsR JRJ | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:TheinS LSL | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:WonkeBB | lld:pubmed |
pubmed-article:1873227 | pubmed:author | pubmed-author:SuraTT | lld:pubmed |
pubmed-article:1873227 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:1873227 | pubmed:volume | 78 | lld:pubmed |
pubmed-article:1873227 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:1873227 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:1873227 | pubmed:pagination | 430-6 | lld:pubmed |
pubmed-article:1873227 | pubmed:dateRevised | 2006-11-15 | lld:pubmed |
pubmed-article:1873227 | pubmed:meshHeading | pubmed-meshheading:1873227-... | lld:pubmed |
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pubmed-article:1873227 | pubmed:meshHeading | pubmed-meshheading:1873227-... | lld:pubmed |
pubmed-article:1873227 | pubmed:year | 1991 | lld:pubmed |
pubmed-article:1873227 | pubmed:articleTitle | A novel delta 0 mutation in cis with Hb Knossos: a study of different genetic interactions in three Egyptian families. | lld:pubmed |
pubmed-article:1873227 | pubmed:affiliation | MRC Molecular Haematology Unit, John Radcliffe Hospital, Oxford. | lld:pubmed |
pubmed-article:1873227 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:1873227 | pubmed:publicationType | Research Support, Non-U.S. Gov't | lld:pubmed |