| pubmed-article:8471765 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0019904 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0040015 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0017968 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0035696 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C1457869 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C1442161 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0015295 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0009219 | lld:lifeskim |
| pubmed-article:8471765 | lifeskim:mentions | umls-concept:C0181586 | lld:lifeskim |
| pubmed-article:8471765 | pubmed:issue | 8 | lld:pubmed |
| pubmed-article:8471765 | pubmed:dateCreated | 1993-5-19 | lld:pubmed |
| pubmed-article:8471765 | pubmed:abstractText | Glanzmann's thrombasthenia (GT) is the result of the absence or of an altered and dysfunctional expression on the platelet membrane of the fibrinogen receptor (glycoprotein [GP] IIb/IIIa complex). Various molecular genetic mechanisms have been found to be responsible for this inherited disease. In a patient with a severe type of GT, we have found a splice variant in the GP IIIa gene that leads to premature chain termination. Immunoprecipitation experiments, using monoclonal antibodies specific for GP IIb/IIIa, showed that GP IIb/IIIa was not detectable on the platelet membrane. Amplification of reversely transcribed platelet GP IIIa mRNA by the polymerase chain reaction and subsequent sequence analysis showed a 86-bp deletion, which corresponds to exon i of the GP IIIa gene. This deletion results in a shift of the reading frame leading to eight altered amino acids followed by a premature termination codon. Analysis of the corresponding genomic DNA fragments showed three mutations in the exon i-intron i boundary region of the GP IIIa gene. One of these mutations is a G-->T transition that eliminates the GT splice donor site in the wild type. This base pair change creates a restriction site for the enzyme Mse I. Allele-specific restriction enzyme analysis (ASRA) with Mse I of amplified genomic DNA of the parents and the proposita showed that both parents (who are first cousins) are heterozygous, whereas the proposita is homozygous for the G-->T substitution. | lld:pubmed |
| pubmed-article:8471765 | pubmed:language | eng | lld:pubmed |
| pubmed-article:8471765 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8471765 | pubmed:citationSubset | AIM | lld:pubmed |
| pubmed-article:8471765 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8471765 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
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| pubmed-article:8471765 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:8471765 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:8471765 | pubmed:month | Apr | lld:pubmed |
| pubmed-article:8471765 | pubmed:issn | 0006-4971 | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:von dem... | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:Goldschmeding... | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:de... | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:HeyboerHH | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:CuijpersH THT | lld:pubmed |
| pubmed-article:8471765 | pubmed:author | pubmed-author:SimsekSS | lld:pubmed |
| pubmed-article:8471765 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:8471765 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:8471765 | pubmed:volume | 81 | lld:pubmed |
| pubmed-article:8471765 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:8471765 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:8471765 | pubmed:pagination | 2044-9 | lld:pubmed |
| pubmed-article:8471765 | pubmed:dateRevised | 2004-11-17 | lld:pubmed |
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| pubmed-article:8471765 | pubmed:meshHeading | pubmed-meshheading:8471765-... | lld:pubmed |
| pubmed-article:8471765 | pubmed:year | 1993 | lld:pubmed |
| pubmed-article:8471765 | pubmed:articleTitle | Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. | lld:pubmed |
| pubmed-article:8471765 | pubmed:affiliation | Department of Immunological Haematology, Central Laboratory of the Netherlands, Red Cross Blood Transfusion Service, Amsterdam. | lld:pubmed |
| pubmed-article:8471765 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:8471765 | pubmed:publicationType | Case Reports | lld:pubmed |
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