Article
A novel insertional mutation in loricrin in Vohwinkel's Keratoderma.
The Journal of investigative dermatology - 1 Oct 1998
Armstrong D K, McKenna K E, Hughes A E
Abstract excerpt
A mutation in the gene encoding loricrin has recently been reported in a subset of patients with Vohwinkel's Keratoderma manifesting an associated ichthyosiform dermatosis. We have studied a further kindred with this clinical phenotype. Microsatellite marker analysis was consistent with linkage t...
Topics
- Amino Acid Sequence
- Chromosomes, Human, Pair 1
- Family Health
- Female
- Genetic Linkage
- Humans
- Ichthyosis
- Keratoderma, Palmoplantar
- Male
- Membrane Proteins
- Molecular Sequence Data
- Mutagenesis, Insertional
- Pedigree
- Phenotype