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Acatalasia
Acatalasia Several rare electrophoretic variants of red cell catalase were identified by Baur (1963). Nance et al. (1968) also described electrophoretic variants. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988). Wieacker et al. (1980) assigned a gene for catalase to 11p by study of man-mouse cell hybrid clones. In the hybrid cells, detection of human catalase was precluded by the complexity of the electrophoretic patterns resulting from interference by a catalase-modifying enzyme activity.
H.: Three cases of progressive oral gangrene due to lack of catalase in the blood. Nippon Jibi-Inkoka Gakkai Kaiho 51: 163 only, 1948. <li>32. Wen, J. K.; Osumi, T.; Hashimoto, T.; Ogata, M.: Molecular analysis of human acatalasemia: identification of a splicing mutation. J. Molec. Biol. 211: 383-393, 1990. <li>33. Wieacker, P.; Mueller, C. R.; Mayerova, A.; Grzeschik, K. H.; Ropers, H. H.: Assignment of the gene coding for human catalase to the short arm of chromosome 11. Ann. Genet. 23: 73-77, 1980.
