Novel keratin 5 mutations in epidermolysis bullosa simplex: Cases with unusual genotype–phenotype correlation
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference10 articles.
1. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases;Yasukawa;Br J Dermatol,2006
2. Coiled-coil trigger motifs in the 1B and 2B rod domain segments are required for the stability of keratin intermediate filaments;Wu;Mol Biol Cell,2000
3. Automated splicing mutation analysis by information theory;Nalla;Hum Mutat,2005
4. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara;Irvine;J Invest Dermatol,1997
5. A keratin K5 mutation (Leu 463→Pro) in a family with the Weber-Cockayne type of epidermolysis bullosa simplex;Nomura;Arch Dermatol Res,1997
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1. Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center;Cureus;2024-05-27
2. Allele-Specific Inactivation of an Autosomal Dominant Epidermolysis Bullosa Simplex Mutation Using CRISPR-Cas9;The CRISPR Journal;2022-08-01
3. Mutational analysis on 16 Japanese population cases with epidermolysis bullosa simplex;Journal of Dermatological Science;2013-12
4. Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1;Journal of Dermatological Science;2013-06
5. Expression signature of epidermolysis bullosa simplex;Human Genetics;2011-08-30
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