Novel mutations of ubiquitin protein lig
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S. Russo; F. Cogliati; M. Viri; F. Cavalleri; A. Selicorni; L. Turolla; S. Belli
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Article
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2000
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John Wiley and Sons
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English
โ 42 KB
๐ 2 views
Angelman syndrome is a neurobehavioral disorder caused by defects of imprinted gene(s) on chromosome 15q11-13. AS-specific DNA methylation is found in patients carrying 3-4 Mb deletions (โผ โผ70%), paternal uniparental disomy (3-5%) or imprinting center mutations (2-9%), while normal methylation patte