Article
Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
The Journal of investigative dermatology - 1 Oct 1999
Korge B P, Hamm H, Jury C S, Traupe H, Irvine A D, Healy E, Birch-MacHin M, Rees J L, Messenger A G, Holmes S C, Parry D A, Munro C S
Abstract excerpt
Monilethrix is an hereditary hair dystrophy recently shown to be due to mutations in the helix termination motif of two type II (basic) human hair keratin genes, hHb1 and hHb6. It has been suggested that mutation in hHb1 produces a less severe phenotype. We have studied hair keratin genes and clinical features in 18 unrelated pedigrees of monilethrix from Germany, Scotland, Northern Ireland, and Portugal, in 13...
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