| pubmed-article:12413589 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C1511790 | lld:lifeskim |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C0015518 | lld:lifeskim |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C0596611 | lld:lifeskim |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C0026377 | lld:lifeskim |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C0596607 | lld:lifeskim |
| pubmed-article:12413589 | lifeskim:mentions | umls-concept:C0332324 | lld:lifeskim |
| pubmed-article:12413589 | pubmed:issue | 1-2 | lld:pubmed |
| pubmed-article:12413589 | pubmed:dateCreated | 2002-11-4 | lld:pubmed |
| pubmed-article:12413589 | pubmed:abstractText | Fifteen patients from five families with laboratory data suggesting factor X (FX) deficiency were screened for causative mutations by conformation sensitive gel electrophoresis (CSGE) followed by sequencing. All exonic and flanking intronic regions of factor X gene were amplified using PCR. After heteroduplex formation, samples were analyzed onto a polyacrylamide gel for possible mismatch. An abnormal CSGE profile indicating an heteroduplex was identified in 10/15 cases. All the 10 patients with a patter of migration suggesting a mismatch had a laboratoristic pattern of FX deficiency whereas the five cases with a normal CSGE aspect referred to the normal components of the families who did not carry any FX defect. Sequencing demonstrated that the 10 exons, which showed a suspect CSGE pattern, harbored a mutation responsible for the factor X defect. Of the five mutation identified, two were recognized to be novel mutations (a 871C>T substitution and a 1169G>T transversion in exon 8), both located in the catalytic portion of FX. CSGE may be an effective and simple procedure for screening factor X gene mutations. | lld:pubmed |
| pubmed-article:12413589 | pubmed:language | eng | lld:pubmed |
| pubmed-article:12413589 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12413589 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:12413589 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:12413589 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:12413589 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:12413589 | pubmed:issn | 0049-3848 | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:WyattW KWK | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:GirolamiAnton... | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:VianelloFabri... | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:LombardiAnna... | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:Dal... | lld:pubmed |
| pubmed-article:12413589 | pubmed:author | pubmed-author:CabrioLauraL | lld:pubmed |
| pubmed-article:12413589 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:12413589 | pubmed:day | 15 | lld:pubmed |
| pubmed-article:12413589 | pubmed:volume | 107 | lld:pubmed |
| pubmed-article:12413589 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:12413589 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:12413589 | pubmed:pagination | 51-4 | lld:pubmed |
| pubmed-article:12413589 | pubmed:dateRevised | 2009-11-19 | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:meshHeading | pubmed-meshheading:12413589... | lld:pubmed |
| pubmed-article:12413589 | pubmed:year | 2002 | lld:pubmed |
| pubmed-article:12413589 | pubmed:articleTitle | Conformation sensitive gel electrophoresis for detection of factor X gene mutations. | lld:pubmed |
| pubmed-article:12413589 | pubmed:affiliation | Department of Medical and Surgical Sciences, Second Chair of Medicine, University of Padua Medical School, via Ospedale, 105, 35100, Padua, Italy. fabvian@unipd.it | lld:pubmed |
| pubmed-article:12413589 | pubmed:publicationType | Journal Article | lld:pubmed |
| pubmed-article:12413589 | pubmed:publicationType | Evaluation Studies | lld:pubmed |
