[Clinical characteristics of Huntington disease in two pedigrees and analysis of expanded CAG trinucleotide repeat].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences(2011)
Abstract
HD is an autosomal dominant neurodegenerative disorder with genetic anticipation caused by enlargement of CAG repeat in IT15 gene. The clinical manifestation is different between the juvenile-onset and the adult-onset. The number of CAG repeat is inversely correlated with the onset age and clinical severity.
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Key words
huntington disease,pedigrees
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