Autor: |
Del‐Favero, Jurgen, Krols, Luc, Michalik, Andrej, Theuns, Jessie, Löfgren, Ann, Goossens, Dirk, Wehnert, Anita, Van den Bossche, Dirk, Van Zand, Karel, Backhovens, Hubert, van Regenmorter, Nicole, Martin, Jean‐Jacques, Van Broeckhoven, Christine |
Zdroj: |
Human Molecular Genetics; Feb98, Vol. 7 Issue 2, p177, 10p |
Abstrakt: |
Analyzes autosomal dominant cerebellar ataxia with retinal degeneration caused by CAG triplet repeat expansion. Complications associated with the disease; Production of elongated polyglutamine tract in the corresponding protein; Correlation between the number of repeats and onset stage and the appearance of symptoms. |
Databáze: |
Complementary Index |
Externí odkaz: |
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