Cycloheximide Facilitates the Identification of Aberrant Transcripts Resulting from a Novel Splice-Site Mutation in COL17A1 in a Patient with Generalized Atrophic Benign Epidermolysis Bullosa
Open Access
- 1 February 1998
- journal article
- case report
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 110 (2) , 165-169
- https://doi.org/10.1046/j.1523-1747.1998.00103.x
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- A Homozygous In-Frame Deletion in the Collagenous Domain of Bullous Pemphigoid Antigen BP180 (Type XVII Collagen) Causes Generalized Atrophic Benign Epidermolysis BullosaJournal of Investigative Dermatology, 1997
- Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis BullosaAmerican Journal of Human Genetics, 1997
- Premature Termination Codons Are Present on Both Alleles of the Bullous Pemphigoid Antigen 2/Type XVII Collagen Gene in Five Austrian Families with Generalized Atrophic Benign Epidermolysis BullosaJournal of Investigative Dermatology, 1997
- Revertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene ConversionCell, 1997
- A Homozygous Deletion Mutation in the Gene Encoding the 180-kDa Bullous Pemphigoid Antigen (BPAG2) in a Family with Generalized Atrophic Benign Epidermolysis BullosaJournal of Investigative Dermatology, 1996
- Generalized Atrophic Benign Epidermolysis BullosaArchives of Dermatology, 1996
- Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaNature Genetics, 1995
- Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosaExperimental Dermatology, 1995
- 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa.Journal of Clinical Investigation, 1995
- Exon Recognition in Vertebrate SplicingJournal of Biological Chemistry, 1995