Article
Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent.
Human molecular genetics - 1 Oct 1993
Telenius H, Kremer H P, Theilmann J, Andrew S E, Almqvist E, Anvret M, Greenberg C, Greenberg J, Lucotte G, Squitieri F
Abstract excerpt
Juvenile Huntington disease (HD), characterised by onset of symptoms before the age of 20 with rigidity and intellectual decline, is associated with a predominance of affected fathers. In order to investigate the molecular basis for the observed parental effect, we have analysed the CAG trinucleotide repeat within the HD gene in 42 juvenile onset cases from 34 families. A highly significant correlation was found...
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