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Variant of keratoderma hereditary mutilans (Vohwinkel's syndrome)
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Structure organization of cornified cell envelopes and alterations in inherited skin disorders
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Identification of a major keratinocyte cell envelope protein, loricrin
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Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis
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A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
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8
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Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis
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Korge B.P., Ishida-Yamamoto A., Punter C., Dopping-Hepenstal P.J.C., Iizuka H., Stephenson A., Eady R.A.J., Munro C.S. Loricrin mutation in Vohwinkel's keratoderma is unique to the variant with ichthyosis. J Invest Dermatol. 109:1997;604-610.
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Abnormal cornified cell envelope formation in mutilating palmoplantar keratoderma unrelated to epidermal differentiation complex
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The molecular pathology of progressive symmetric erythrokeratoderma: A frameshift mutation in the loricrin gene and perturbation in the cornified cell envelope
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Ishida-Yamamoto A., McGrath J.A., Lam H., Iizuka H., Friedman R.A., Christiano A.M. The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbation in the cornified cell envelope. Am J Hum Genet. 61:1997;581-589.
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Ishida-Yamamoto, A.1
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Lam, H.3
Iizuka, H.4
Friedman, R.A.5
Christiano, A.M.6
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