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2006•Journal of Investigative DermatologyOpen access

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

Haihui Liao, Yiwei Zhao, David Baty, John A. McGrath, Jemima E. Mellerio, W.H. Irwin McLean

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Key concepts: Frameshift mutation, Genodermatosis, Haploinsufficiency, Genetics, Keratin 5, Biology, Mutation, Proband

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A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease — Research Paper | ScholarLens