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    Research 10 of 101

    1. Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype Journal of Investigative Dermatology · 1999 · 62 citations
    2. A Mutational Hotspot in the 2B Domain of Human Hair Basic Keratin 6 (hHb6) in Monilethrix Patients Journal of Investigative Dermatology · 1998 · 34 citations
    3. 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 Journal of Investigative Dermatology · 1999 · 29 citations
    4. Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix Clinical and Experimental Dermatology · 2003 · 21 citations
    5. Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix Journal of Investigative Dermatology · 1999 · 20 citations
    6. Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix Dermatology · 2003 · 10 citations
    7. Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression Experimental Dermatology · 1998 · 26 citations
    8. Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix Nature Genetics · 1997 · 175 citations
    9. Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation. Clinical and Experimental Dermatology · 1997
    10. A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix Human Genetics · 1997 · 100 citations
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