A Deletion Mutation in COL17A1 in Five Austrian Families with Generalized Atrophic Benign Epidermolysis Bullosa Represents Propagation of an Ancestral Allele
- 1 February 1998
- journal article
- Published by Elsevier in Journal of Investigative Dermatology
- Vol. 110 (2) , 170-173
- https://doi.org/10.1046/j.1523-1747.1998.00101.x
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- The Extracellular Domain of BPAG2 Localizes to Anchoring Filaments and its Carboxyl Terminus Extends to the Lamina Densa of Normal Human Epidermal Basement MembraneJournal of Investigative Dermatology, 1997
- Sjögren-Larsson Syndrome Is Caused by a Common Mutation in Northern European and Swedish PatientsJournal of Investigative Dermatology, 1997
- 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
- 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
- PCR Methods of GenotypingCurrent Protocols in Human Genetics, 1997
- A Common Insertion Mutation in COL7A1 in Two Italian Families With Recessive Dystrophic Epidermolysis BullosaJournal of Investigative Dermatology, 1996
- A comprehensive genetic map of the human genome based on 5,264 microsatellitesNature, 1996
- Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosaNature Genetics, 1995
- Cloning and Primary Structural Analysis of the Bullous Pemphigoid Autoantigen BP180Journal of Investigative Dermatology, 1992