A novel mutation (p.Thr198Ser) in the 1A helix of keratin 5 causes the localized variant of Epidermolysis Bullosa Simplex
Author:
Publisher
Wiley
Subject
Dermatology,Molecular Biology,Biochemistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0625.2008.00820.x/fullpdf
Reference18 articles.
1. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008
2. Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations;Rugg;J Invest Dermatol,2007
3. Correction of laminin-5 deficiency in human epidermal stem cells by transcriptionally targeted lentiviral vectors;Di Nunzio;Mol Ther,2008
4. Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the literature;Dang;Acta Derm Venereol,2008
5. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa;Dang;Exp Dermatol,2008
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1. A Novel Mutation p.L461P in KRT5 Causing Localized Epidermolysis Bullosa Simplex;Annals of Dermatology;2021
2. Mutational analysis of epidermal and hyperproliferative type I keratins in mild and moderate psoriasis vulgaris patients: a possible role in the pathogenesis of psoriasis along with disease severity;Human Genomics;2018-05-21
3. Gene expression analysis of an epidermolysis bullosa simplex Dowling-Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing;Experimental Dermatology;2011-12-14
4. A founder effect of c.1938delC in ITGB4 underlies junctional epidermolysis bullosa and its application for prenatal testing;Experimental Dermatology;2010-10-18
5. Epidermolysis bullosa simplex due toKRT5mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamineN-oxide in cultured primary keratinocytes;British Journal of Dermatology;2010-02-01
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