Article
Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix.
Nature genetics - 1 Aug 1997
Winter H, Rogers M A, Langbein L, Stevens H P, Leigh I M, Labrèze C, Roul S, Taieb A, Krieg T, Schweizer J
Abstract excerpt
Pathogenic mutations in a large number of human epithelial keratins have been well characterized. However, analogous mutations in the hard alpha-keratins of hair and nail have not yet been described. Monilethrix is a rare autosomal dominant hair defect with variable expression. Hairs from affecte...
Topics
- Adolescent
- Child
- Female
- Glutamic Acid
- Hair Diseases
- Heterozygote
- Humans
- Keratins
- Lysine
- Male
- Middle Aged
- Mutation
- Pedigree