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J Invest Dermatol. 1993 Dec;101(6):890-1.

Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.

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1
Department of Dermatology, University of California School of Medicine, San Francisco.

Abstract

Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by disruption of the keratin intermediate filament network of suprabasal keratinocytes. We have used linkage analysis to test whether a keratin gene mutation might underlie this disease. This analysis excluded the keratin gene loci as the sites for the disease-causing mutation in one affected kindred.

PMID:
7504030
[Indexed for MEDLINE]
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