Article
Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease.
Neurology - 15 Jan 1999
Nance M A, Mathias-Hagen V, Breningstall G, Wick M J, McGlennen R C
Abstract excerpt
A patient with juvenile Huntington's disease (HD) of probable maternal inheritance is reported. The expanded IT-15 allele was only detected with the use of modified PCR and Southern transfer techniques, which showed a CAG trinucleotide repeat expansion of approximately 250 repeats-the largest CAG...
Topics
- Adolescent
- Age of Onset
- Alleles
- Blotting, Southern
- Humans
- Huntington Disease
- Male
- Polymerase Chain Reaction
- Trinucleotide Repeats
