Article
Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q.
Human molecular genetics - 1 Jul 1994
Ikeda S, Welsh E A, Peluso A M, Leyden W, Duvic M, Woodley D T, Epstein E H
Abstract excerpt
Hailey-Hailey disease (familial benign chronic pemphigus) is an autosomal dominant skin disease characterized by impaired keratinocyte cohesion and consequent blister formation. In the present study we have used linkage analysis to map the gene for this disease to a region of chromosome 3q betwee...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 3
- DNA, Satellite
- Female
- Genes, Dominant
- Genetic Markers
- Haplotypes
- Humans
- Keratinocytes
- Lod Score
- Male
- Mutation
- Pedigree
- Pemphigus, Benign Familial
- Repetitive Sequences, Nucleic Acid