A recurrent missense mutation of keratin 1 gene in a Chinese family with epidermolytic hyperkeratosis (severe palmoplantar hyperkeratosis, type 1)
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-4632.2011.05202.x/fullpdf
Reference11 articles.
1. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis;Bolling;Br J Dermatol,2010
2. Clinical heterogeneity in epidermolytic hyperkeratosis;DiGiovanna;Arch Dermatol,1994
3. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event;Lacz;Int J Dermatol,2005
4. Epidermolytic hyperkeratosis type PS-1 caused by aberrant splicing of KRT1;Tal;Clin Exp Dermatol,2005
5. An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1;Kremer;J Invest Dermatol,1998
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1. De Novo Mutation in KRT1 Leads to Epidermolytic Palmoplantar Keratoderma: from Chinese Traditional Treatment to Prenatal Diagnosis Using Whole-Exome Sequencing-Plus;DNA and Cell Biology;2023-10-01
2. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr;The Journal of Dermatology;2020-06-25
3. A novel mutation of KRT9 gene in a Chinese Han pedigree with epidermolytic palmoplantar keratoderma;Journal of Cosmetic Dermatology;2016-10-10
4. In silico predicted structural and functional insights of all missense mutations on 2B domain of K1/K10 causing genodermatoses;Oncotarget;2016-07-13
5. S159P mutation of keratin 10 gene causes severe form of epidermolytic hyperkeratosis;Journal of the European Academy of Dermatology and Venereology;2015-09-15
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