Recurrent R156H mutation of KRT10 in a Japanese family with bullous congenital ichthyosiform erythroderma
Author:
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1468-3083.2000.00101.x/fullpdf
Reference15 articles.
1. Abnormal fibrous protein isolated from the stratum corneum of a patient with bullous congenital ichthyosiform erythroderma (BCIE)
2. Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.
3. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q
4. The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes
5. Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
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1. Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis;Orphanet Journal of Rare Diseases;2016-01-13
2. Disorders of keratinization;McKee's Pathology of the Skin;2012
3. 9 Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
4. Disorders of epidermal maturation and keratinization;Weedon's Skin Pathology;2010
5. Research history for keratinizing disorders at Department of Dermatology, Juntendo University School of Medicine;Juntendo Medical Journal;2006
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