Monilethrix: A Keratin HHb6 Mutation Is Co-Dominant With Variable Expression

    October 1998 in “ Experimental Dermatology ”
    Abraham Zlotogorski, Liran Horev, Benjamin Gläser
    Studysummary This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
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    Research cited in this study 4

    1. A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix Human Genetics · 1997
    2. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    3. Sequences and Differential Expression of Three Novel Human Type-II Hair Keratins Differentiation · 1997
    4. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996

    Related research 1

    1. The Extraction And Characterization Of Human Nail Keratin Journal of Dermatological Science · 1991