A Novel Mutation in the Helix Termination Peptide of Keratin 5 Causing Epidermolysis Bullosa Simplex Dowling–Meara
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference13 articles.
1. Human keratin diseases. Hereditary facility of specific epithelial tissues;Corden;Exp Dermatol,1996
2. Epidermolysis bullosa dermatitis herpetiformis;Dowling;Br J Dermatol,1954
3. The sequence of the human epidermal 58-KD (=5) type-II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins;Eckert;DNA,1988
4. A common keratin 5 gene mutation in epidermolysis bullosa simplex Weber-Cockayne;Ehrlich;J Invest Dermatol,1995
5. Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal of the rod domain;Hatzfeld;J Cell Sci,1991
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2. The monoclonal antibody EPR1614Y against the stem cell biomarker keratin K15 lacks specificity and reacts with other keratins;Scientific Reports;2019-02-13
3. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure;British Journal of Dermatology;2010-02-25
4. Keratin mutations in patients with epidermolysis bullosa simplex: correlations between phenotype severity and disturbance of intermediate filament molecular structure;British Journal of Dermatology;2010-02
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