Epidermolysis Bullosa Simplex Associated with Severe Mucous Membrane Involvement and Novel Mutations in the Plectin Gene
- 1 February 2000
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 114 (2) , 376-380
- https://doi.org/10.1046/j.1523-1747.2000.00856.x
Abstract
No abstract availableKeywords
This publication has 27 references indexed in Scilit:
- Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitectureGenes & Development, 1997
- Human keratin diseases:Experimental Dermatology, 1996
- Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.The Journal of cell biology, 1995
- Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon.Genes & Development, 1995
- A panel of monoclonal antibodies to rat plectin: Distinction by epitope mapping and immunoreactivity with different tissues and cell linesActa Histochemica, 1994
- Ultrastructural Clues to Genetic Disorders of Skin: The Dermal-Epidermal JunctionJournal of Investigative Dermatology, 1994
- A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.Genes & Development, 1994
- Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes.The Journal of cell biology, 1992
- Monoclonal antibody mapping of structural and functional plectin epitopes.The Journal of cell biology, 1991
- Autosomal Recessive Epidermolysis Bullosa SimplexArchives of Dermatology, 1989