Article
Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
Nature genetics - 1 Dec 1998
Richard G, Smith L E, Bailey R A, Itin P, Hohl D, Epstein E H, DiGiovanna J J, Compton J G, Bale S J
Abstract excerpt
Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability. It has a disfiguring phenotype characterized by the independent occurrence of two morphologic features: transient figurate red patches and localized or...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 1
- Connexins
- Erythema
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Sequence Homology, Amino Acid