Article
Monilethrix: a keratin hHb6 mutation is co-dominant with variable expression.
Experimental dermatology - 1 Oct 1998
Zlotogorski A, Horev L, Glaser B
Abstract excerpt
Monilethrix is a rare autosomal dominant disease characterized by hair fragility and hyperkeratotic papules. Mutations in type-II hair specific keratins hHb6 and hHb1 have recently been reported. We describe a large family with a E410D mutation in the evolutionary conserved helix termination moti...
Topics
- Base Sequence
- DNA Mutational Analysis
- Female
- Gene Expression
- Genes, Dominant
- Genetic Testing
- Hair Diseases
- Humans
- Keratins
- Male
- Mutation
- Pedigree
- Reference Values