High-resolution loading tests in the study of genetic heterogeneity in gangliosidosis fibroblasts |
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| Authors: | V. S. Akhunov T. V. Mirenburg X. D. Krasnopolskaya |
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| Affiliation: | (1) Research Centre for Medical Genetics of the Russian Academy of Medical Sciences, 1, rMoskvorechje, 115478 Moscow, Russia |
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| Abstract: | Summary GM1- and GM2-gangliosides were isolated from brain and radio-labelled. The labelled moieties were localized by hydrolysis with lysosomal enzymes, followed by thin-layer chromatography of the products. High-resolution loading tests with labelled gangliosides were developed and found to differentiate infantile and juvenile forms of GM1- and GM2-gangliosidoses as well as the identification of B, O and AB types of GM2-gangliosidosis. |
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