Article
DNA duplication associated with Charcot-Marie-Tooth disease type 1A.
Cell - 26 Jul 1991
Lupski J R, de Oca-Luna R M, Slaugenhaupt S, Pentao L, Guzzetta V, Trask B J, Saucedo-Cardenas O, Barker D F, Killian J M, Garcia C A, Chakravarti A, Patel P I
Abstract excerpt
Charcot-Marie-tooth disease type 1A (CMT1A) was localized by genetic mapping to a 3 cM interval on human chromosome 17p. DNA markers within this interval revealed a duplication that is completely linked and associated with CMT1A. The duplication was demonstrated in affected individuals by the pre...
Topics
- Animals
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Cricetinae
- Cricetulus
- DNA
- DNA Replication
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Homozygote
- Humans
- Hybrid Cells