Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1046/j.1365-2230.2003.01263.x/fullpdf
Reference8 articles.
1. Pachyonychia congenita: a report of six cases in one family;Jackson;Ann Eugen,1951
2. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita;Terrinoni;J Invest Dermatol,2001
3. Keratin 16 and 17 mutations cause pachyonychia congenita;McLean;Nature Genet,1995
4. Mutation of a type II keratin gene (K6a) in pachyonychia congenita;Bowden;Nature Genet,1995
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1. Distinctions in the Management, Patient Impact, and Clinical Profiles of Pachyonychia Congenita Subtypes;Skin Appendage Disorders;2021
2. Pachyonychia Congenita in Pediatric Patients;JAMA Dermatology;2014-02-01
3. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16;British Journal of Dermatology;2012-03-27
4. Transformation of Human Urothelial Cells (UROtsa) by As 3+ and Cd 2+ Induces the Expression of Keratin 6a;Environmental Health Perspectives;2008-04
5. Recurrent mutation in keratin 17 in a large family with pachyonychia congenita type 2;Archives of Dermatological Research;2008-03-18
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