Concepedia

A Novel Dinucleotide Mutation in Keratin 10 in the Annular Epidermolytic Ichthyosis Variant of Bullous Congenital Ichthyosiform Erythroderma

Gwang-Yeol Joh, Heiko Traupe, Dieter Metze, Dorothée Nashan, Marcel Huber, Daniel Hohl, Mary A. Longley, Joseph A. Rothnagel, Dennis R. Roop

Journal of Investigative Dermatology · 1997 · 56 citations · 26 references

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26

A formaldehyde - glutaraldehyde fixative of high osmolarity for use in electron microscopy

M J Karnovsky · The Journal of Cell Biology · 1965 · 5.9K citations

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The CpG dinucleotide and human genetic disease

D.N. Cooper, Hagop Youssoufian · Human Genetics · 1988 · 941 citations

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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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