Concepedia

Novel Splice Site Mutation in Keratin 1 Underlies Mild Epidermolytic Palmoplantar Keratoderma in Three Kindreds

Sarah J. Hatsell, Irene M. Leigh, David P. Kelsell, Robin A.J. Eady, Lena Wennerstrand, Patricia J.C. Dopping-Hepenstal, Colin S. Munro

Journal of Investigative Dermatology · 2001 · 55 citations · 13 references

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Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

Joseph A. Rothnagel, Andrea Dominey, L. D. Dempsey et al. · Science · 1992 · 373 citations

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The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes

Jian Cheng, Andrew J. Syder, Qian-Chun Yu et al. · Cell · 1992 · 344 citations

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A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

Constantin C. Chipev, Bernhard Korge, Nedialka G. Markova et al. · Cell · 1992 · 282 citations

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Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

André Reis, Hans-Christian Hennies, Lutz Langbein et al. · Nature Genetics · 1994 · 251 citations

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Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.

Anthony Letai, Pierre A. Coulombe, Elaine Fuchs · The Journal of Cell Biology · 1992 · 152 citations · Full text

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