A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations
- 1 January 2002
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 118 (1) , 87-93
- https://doi.org/10.1046/j.0022-202x.2001.01591.x
Abstract
No abstract availableKeywords
This publication has 44 references indexed in Scilit:
- A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin DeficiencyThe American Journal of Pathology, 2001
- Structure and Function of Hemidesmosomes: More Than Simple Adhesion ComplexesJournal of Investigative Dermatology, 1999
- Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosaMatrix Biology, 1999
- Not just scaffolding: plectin regulates actin dynamics in cultured cellsGenes & Development, 1998
- Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitectureGenes & Development, 1997
- The dermal—epidermal junctionCurrent Opinion in Cell Biology, 1997
- A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.Journal of Clinical Investigation, 1996
- Ultrastructural Identification of Basic Abnormalities as Clues to Genetic Disorders of the EpidermisJournal of Investigative Dermatology, 1994
- Assignment of the gene for cytosolic alanine aminotransferase (AAT1) to human chromosome 8Annals of Human Genetics, 1982
- Epidermolysis Bullosa Herpetiformis Dowling-MearaDermatology, 1982