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Paul Uvebrant Eva Björck Nils Conradi Klas-Henry Hökegård Tommy Martinsson Jan Wahlström 《黑龙江环境通报》1993,13(7):651-657
A family with two siblings, 10 and 8 years old, both with clinical and ultrastructural evidence of juvenile neuronal ceroid lipofuscinosis is described. The family was found to be informative for the restriction fragment length polymorphisms (RFLPs) detected by the probes pCJ52–95Ml (locus D16S148) and pCJ52-94Tl (locus D16S159) flanking the juvenile neuronal ceroid lipofuscinosis locus, CLN3. The parents were both heterozygous using these probes, while their two children with juvenile neuronal ceroid lipofuscinosis were both homozygous. Chorionic villi analysis showed that the fetus was heterozygous and had inherited the one allele of the mother which was not found in the two siblings. This suggested that the fetus had derived one healthy allele from the mother, the risk for a double crossing-over being less than 1 per cent. Electron microscopy showed no fingerprint inclusions in chorionic villi. The child was investigated at 6 months of age and found to be healthy, as new fingerprint inclusions were found at electron microscopy and no vacuolated lymphocytes were found in the blood smear. Due to the risk of heterogeneity, both DNA-based analysis and electron microscopy on chorionic villi are recommended for prenatal examination for juvenile neuronal ceroid lipofuscinosis. 相似文献
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Hällström Lina P.B. Alakangas Lena Martinsson Olof 《Environmental science and pollution research international》2020,27(6):6180-6192
Environmental Science and Pollution Research - More knowledge of the geochemical behavior of tungsten (W) and associated contamination risks is needed. Therefore, weathering of scheelite (CaWO4)... 相似文献
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Åsa Löfgren Peter Martinsson Magnus Hennlock Thomas Sterner 《Journal of Environmental Economics and Management》2012,63(1):66-72
The objective of the present paper is to investigate the robustness of the well-known result that pre-set default options determine people's choices. We do so by conducting a field experiment among environmental economists attending a large international conference on environmental economics. The participants were, at the time of registration, randomly allocated to different treatments related to carbon offsetting. What differs from earlier default studies is that our subjects have good knowledge about the good at hand. We investigate whether the choices of these experienced individuals are affected by a pre-set default option, and we also study the effect of a treatment with no pre-set default option. Our results, together with previous findings, indicate that the effect of a default option attenuates with experience. 相似文献
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