A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

Abstract

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 2B subdomains) in the EIATYRRLLEGEE helix termination motif of… (More)

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Cite this paper

@article{Winter1998AVM, title={A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.}, author={Hermelita Winter and Christine Labr{\`e}ze and Val{\'e}rie Chapalain and Jean-Etienne Surl{\`e}ve-Bazeille and M Mercier and Michael A. Rogers and Alain Taieb and Juergen Schweizer}, journal={The Journal of investigative dermatology}, year={1998}, volume={111 1}, pages={169-72} }