Article
A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.
Human genetics - 1 Dec 1997
Winter H, Rogers M A, Gebhardt M, Wollina U, Boxall L, Chitayat D, Babul-Hirji R, Stevens H P, Zlotogorski A, Schweizer J
Abstract excerpt
Monilethrix is a rare dominant hair disease characterized by beaded or moniliform hair which results from the periodic thinning of the hair shaft and shows a high propensity to excess weathering and fracturing. Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu...
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