Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.

Author:

MacMillan J C,Morrison P J,Nevin N C,Shaw D J,Harper P S,Quarrell O W,Snell R G

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromohas CAG repeat lengths of 38 and 16; the disease associated allele undergoes expansion somes;Cell,1993

2. Absence of close linkage between benign hereditary chorea to 39 repeats in III1 and 45 in III2. Subject II2 also has 45 copies of the repeat on the and the locus D4S1O (probe G8);Quarrell, O.W.J.; Youngman, S.; Sarfarazi, M.; Harper, P.S.;J Med Genet,1988

3. Relationship between trinucleotide repeat expansion and phenotypic Discussion variation in Huntington's disease;Snell, R.G.; MacMillan, J.C.; Cheadle, J.P.;Nature Genet; The clinical diagnosis for affected subjects in this family was initially thought to be benign,1993

4. Trinucleotide repeat length instability and age of onset in Huntington's disease;Duyao, M.; Ambrose, C.; Myers, R.;Nature Genet,1993

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