Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2230.2004.01661.x/fullpdf
Reference11 articles.
1. The molecular basis of hereditary palmoplantar keratodermas
2. A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
3. Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis
4. Clinical heterogeneity in epidermolytic hyperkeratosis
5. Phenotypic/Genotypic Correlations in Patients with Epidermolytic Hyperkeratosis and the Effects of Retinoid Therapy on Keratin Expression
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2. La génétique des kératodermies palmoplantaires isolées;Annales de Dermatologie et de Vénéréologie - FMC;2022-03
3. Inherited Disorders of Cornification;Rook's Textbook of Dermatology, Ninth Edition;2016-10-09
4. Epidermolytic Acanthoma of the Genitalia Does Not Show Mutations in KRT1 or KRT10;The American Journal of Dermatopathology;2016-02
5. Keratin 1 Plays a Critical Role in Golgi Localization of Core 2 N-Acetylglucosaminyltransferase M via Interaction with Its Cytoplasmic Tail;Journal of Biological Chemistry;2015-03
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