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. 1993 Sep;2(9):1475-6.
doi: 10.1093/hmg/2.9.1475.

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

A Nørremølle  1 , O Riess, J T Epplen, K Fenger, L Hasholt, S A Sørensen
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Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families

A Nørremølle et al. Hum Mol Genet. 1993 Sep.

Abstract

IT15 is a novel gene, localized to chromosome 4, and encoding a protein named Huntingtin. A polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to Huntington's Disease. We have investigated the CAG repeat in the Huntingtin gene in 71 unrelated Danish patients with Huntington's Disease, and found repeat lengths of 39 to 70 repeat units in contrast to 9 to 30 CAG's on normal chromosomes. Comparison of repeat length and age at onset of disease symptoms in 52 individuals indicates an inverse correlation between the age at onset and the number of CAG repeat units.

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