Genetic Analysis of a Severe Case of Dowling-Meara Epidermolysis Bullosa Simplex
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference44 articles.
1. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines;Albers;J Cell Biol,1987
2. Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolysis: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis;Anton-Lamprecht;J Invest Dermatol,1983
3. Ultrastructural identification of basic abnormalities as clues to genetic disorder of the epidermis;Anton-Lamprecht;J Invest Dermatol,1994
4. Epidermolysis bullosa herpetiformis Dowling Meara. Report of a case and pathomorphogenesis;Anton-Lamprecht;Dermatologica,1982
5. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities;Bonifas;Science,1991
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1. A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia;Acta Dermato Venereologica;2017
2. Epidermolysis Bullosa Simplex in Scotland Caused by a Spectrum of Keratin Mutations;Journal of Investigative Dermatology;2007-03
3. Three Severe Cases of EBS Dowling-Meara Caused by Missense and Frameshift Mutations in the Keratin 14 Gene;Journal of Investigative Dermatology;2006-04
4. Modeling effects of mutations in coiled-coil structures: Case study using epidermolysis bullosa simplex mutations in segment 1a of k5/k14 intermediate filaments;Proteins: Structure, Function, and Bioinformatics;2004-04-01
5. Mutation Report. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex;Experimental Dermatology;2004-03
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