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MONILETHRIX, GLU413LYS (KRTHB6) (allelic variant)
National Institutes of Health
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Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.
The Journal of investigative dermatology
Corpus ID: 32988538
Monilethrix, a rare human hair disorder with autosomal dominant transmission, can be caused by mutations in hair keratins. Up to…
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