A New Mutation in the Type II Hair Cortex Keratin hHb1 Involved in the Inherited Hair Disorder Monilethrix

    November 1997 in “ Human Genetics ”
    Hermelita Winter, Michael A. Rogers, Mathias Gebhardt … J x FC rgen Schweizer
    Studysummary In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.
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    Research cited in this study 7

    1. Mutations in the Hair Cortex Keratin HHB6 Cause the Inherited Hair Disease Monilethrix Nature Genetics · 1997
    2. Evidence for Genetic Heterogeneity in Monilethrix Journal of Investigative Dermatology · 1996
    3. Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13 Journal of Investigative Dermatology · 1996
    4. Sequence Data and Chromosomal Localization of Human Type I and Type II Hair Keratin Genes Experimental Cell Research · 1995
    5. A cDNA Encoding the Human Type I Hair Keratin hHa1 Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression · 1995
    6. A Gene for Monilethrix Is Closely Linked to the Type II Keratin Gene Cluster at 12q13 Human Molecular Genetics · 1995
    7. A Novel Human Type I Hair Keratin Gene: Evidence For Two Keratin HHa3 Isoforms Molecular Biology Reports · 1995

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    3. Hair Follicle-Specific Keratins And Their Diseases Experimental cell research · 2007
    4. Keratins of the Human Hair Follicle International review of cytology · 2005
    5. Hair Keratin Pattern in Human Hair Follicles Grown In Vitro Experimental dermatology · 2003
    6. Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest It Evolved from Keratinocyte Keratins Journal of Investigative Dermatology · 1989