Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests
- 1 January 1999
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 112 (1) , 109-112
- https://doi.org/10.1046/j.1523-1747.1999.00461.x
Abstract
No abstract availableKeywords
Funding Information
- U.S. Public Health Service
- Keio University
- National Institutes of Health (PO1-AR38923)
- Ministry of Education, Culture, Sports, Science and Technology
This publication has 11 references indexed in Scilit:
- Hemidesmosomal variants of epidermolysis bullosaExperimental Dermatology, 1998
- A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.Journal of Clinical Investigation, 1996
- Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophyHuman Molecular Genetics, 1996
- Plectin deficiency results in muscular dystrophy with epidermolysis bullosaNature Genetics, 1996
- Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.Genes & Development, 1996
- Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.Journal of Clinical Investigation, 1996
- Rapid detection of BRCA1 mutations by the protein truncation testNature Genetics, 1995
- Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes.Proceedings of the National Academy of Sciences, 1993
- Expression of plectin mutant cDNA in cultured cells indicates a role of COOH-terminal domain in intermediate filament association.The Journal of cell biology, 1993
- Monoclonal antibody mapping of structural and functional plectin epitopes.The Journal of cell biology, 1991