Article
A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.
The Journal of investigative dermatology - 1 Jul 1998
Winter H, Labrèze C, Chapalain V, Surlève-Bazeille J E, Mercier M, Rogers M A, Taieb A, Schweizer J
Abstract excerpt
Monilethrix is a rare human hair disorder with autosomal dominant transmission that can be caused by mutations in hair keratins. Up until now, pathogenic mutations in the type II hair cortex keratins hHb6 and hHb1 were restricted to a highly conserved glutamic acid residue Glu413 (Glu117 of the 2...
Topics
- Adult
- Child, Preschool
- Female
- Glutamic Acid
- Hair Diseases
- Humans
- Keratins
- Lysine
- Phenotype
- Point Mutation