41 research outputs found
Long-range Angular Correlations On The Near And Away Side In P-pb Collisions At √snn=5.02 Tev
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In vitro evaluation of endovascular stents to assess suitability for endovascular graft fixation
No full textComparison of phenotypic assessment and the use of two restriction fragment length polymorphisms in the diagnosis of the carrier state in haemophilia B
No full textMetabolic and Anatomic Adaptations in Chickens “Trained” to Eat Their Daily Food in Two Hours
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Identification of haemophilia B patients with mutations in the two calcium binding domains of factor IX: importance of a β-OH Asp 64→Asn change
No full textExamination of the mediating effect of self-efficacy and perceived social support on the spinal cord injuries' social participation
No full textA novel haemophilia B defect due to partial duplication of the factor IX gene
No full textSummary. A patient with mild FIX deficiency was found to have partial duplication of the 3' region of the gene, giving, in addition to the a normal gene, another piece of DNA containing exons 5', 6', 7' and 8' and the intervening sequences. Cloning and sequencing of the junction region revealed that crossover occurred at nt 31927 in the 3° untranslated region of one chromosome/chromatid and nt 10640 in intron 4 of the other. No homology or topoisomerase specific sequences were observed in the crossover region. PCR and sequencing of illegitimate FIX transcripts from the patient's lymphocytes showed at least three different species of mRNAs. Translation of two of these 'novel'mRNAs should result in truncated proteins. Possibilities for the splicing of the mature mRNA are offered to explain the translation of a normal-size FIX protein, which was the only product demonstrated on Western blot analysis
Conducting Creativity Brainstorming Sessions in Small and Medium-Sized Enterprises Using Computer-Mediated Communication Tools
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