Article
Delineation of a 50 kilobase DNA segment containing the recombination site in a sporadic case of Huntington's disease.
Nature genetics - 1 Nov 1992
Weber B, Riess O, Wolff G, Andrew S, Collins C, Graham R, Theilmann J, Hayden M R
Abstract excerpt
No detectable rearrangements involving chromosome 4p16.3 have been observed in patients with Huntington's disease (HD). New mutations for HD could involve structural alterations which might aid the localization of the defective gene. We have reinvestigated a well documented sporadic case of HD. D...
Topics
- Adult
- Alleles
- Base Sequence
- Child
- Chromosome Mapping
- Chromosome Walking
- Chromosomes, Human, Pair 4
- Cloning, Molecular
- Female
- Gene Rearrangement
- Genetic Markers
- Haplotypes
- Humans
- Huntington Disease
- Male
- Molecular Sequence Data
- Mutation
- Pedigree