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Article

Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range.

Journal of medical genetics - 1 Dec 1993

De Rooij K E, De Koning Gans P A, Skraastad M I, Belfroid R D, Vegter-Van Der Vlis M, Roos R A, Bakker E, Van Ommen G J, Den Dunnen J T, Losekoot M

Abstract excerpt

Analysis of the distribution of normal and expanded alleles of the polymorphic (CAG)n repeat in the IT15 gene in the Dutch population confirmed the presence of an expanded repeat on all Huntington's disease (HD) chromosomes. Our results show that the size distributions of normal and affected alleles overlap. Normal alleles range from 11 to 37 repeats and HD alleles contain 37 to 84 repeats. A clear correlation is...

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Identifiers

PMID: 8133511
DOI: 10.1136/jmg.30.12.996
PMCID: PMC1016631

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